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<span class="s2" style="line-height: 14.399999618530273px;"><span class="bumpedFont15" style="line-height: 21.600000381469727px; background-color: rgba(255, 255, 255, 0);">Gentilissimi, </span></span></p>
<p class="s7" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">vi segnaliamo </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">uno
studio</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">recentemente
condotto da un</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">gruppo </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">multidisciplinare </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">di
ricerc</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">atori</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> frances</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">i</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">,</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> coordinato
dal Dott. </span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">Thomas </span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">Bourgeron</span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> dell’I</span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">stituto</span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> Pasteur </span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">di
Parigi, </span></span><span class="s5" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">e </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">pubblicato
su</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> una delle più </span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">prestigios</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">e</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> rivist</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">e</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"> scientifiche </span></span><span class="s6" style="line-height: 13.199999809265137px; font-style: italic;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">Nature</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">(</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;"><a href="http://www.nature.com/">www.nature.com/</a></span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">articles</span></span><span class="s4" style="line-height: 13.199999809265137px;"><span class="bumpedFont15" style="line-height: 19.799999237060547px;">/s41525-017-0035-2).</span></span></span></p>
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<span style="background-color: rgba(255, 255, 255, 0);"><span style="line-height: 21.600000381469727px;">Scopo principale</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">del lavoro francese</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">“</span><span style="line-height: 21.600000381469727px;">A </span><span style="line-height: 21.600000381469727px;">framework</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">to</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">identify</span><span style="line-height: 21.600000381469727px;"></span><span style="line-height: 21.600000381469727px;">contributing</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">genes</span><span style="line-height: 21.600000381469727px;"> in </span><span style="line-height: 21.600000381469727px;">patients</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">with</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">Phelan-McDermid</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">syndrome</span><span style="line-height: 21.600000381469727px;">” </span><span style="line-height: 21.600000381469727px;">è
stat</span><span style="line-height: 21.600000381469727px;">o</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">quello di mappare</span><span style="line-height: 21.600000381469727px;"> diverse
regioni genomich</span><span style="line-height: 21.600000381469727px;">e associate ad un alto rischio </span><span style="line-height: 21.600000381469727px;">di </span><span class="s8" style="line-height: 21.600000381469727px;">Phelan-McDermid</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">S</span><span class="s8" style="line-height: 21.600000381469727px;">yndrome</span><span class="s8" style="line-height: 21.600000381469727px;"> (PMS)</span><span class="s8" style="line-height: 21.600000381469727px;">.</span><span style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">PMS </span><span class="s8" style="line-height: 21.600000381469727px;">è
caratterizzata da </span><span class="s8" style="line-height: 21.600000381469727px;">un ampio spettro di disturbi in comorbilità tra cui i disturbi dello spettro autistico, l’assenza o ritardo </span><span class="s8" style="line-height: 21.600000381469727px;">d</span><span class="s8" style="line-height: 21.600000381469727px;">el
linguaggio, disabilità intellettiva ed epilessia. Tale condizione clinica è causata da una </span><span class="s8" style="line-height: 21.600000381469727px;">delezione</span><span class="s8" style="line-height: 21.600000381469727px;"> della parte distale del
cromosoma 22q13</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> che include il gene SHANK3. Sebbene SHANK3 sia considerato uno dei </span><span class="s8" style="line-height: 21.600000381469727px;">principali</span><span class="s8" style="line-height: 21.600000381469727px;"> geni </span><span class="s8" style="line-height: 21.600000381469727px;">implicati
nella PMS</span><span class="s8" style="line-height: 21.600000381469727px;">, i fattori che </span><span class="s8" style="line-height: 21.600000381469727px;">concorrono a modulare </span><span class="s8" style="line-height: 21.600000381469727px;">la severità
della sindrome rimangono ampiamente sconosciuti. Infatti, </span><span class="s8" style="line-height: 21.600000381469727px;">alcune </span><span class="s8" style="line-height: 21.600000381469727px;">evidenze scientifiche</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">suggeriscono
che </span><span class="s8" style="line-height: 21.600000381469727px;">potrebbero essere</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">m</span><span style="line-height: 21.600000381469727px;">olteplici </span><span style="line-height: 21.600000381469727px;">i </span><span style="line-height: 21.600000381469727px;">cambiamenti/</span><span style="line-height: 21.600000381469727px;">riarrangiamenti</span><span style="line-height: 21.600000381469727px;"> cromosomici </span><span style="line-height: 21.600000381469727px;">che </span><span style="line-height: 21.600000381469727px;">influiscono </span><span style="line-height: 21.600000381469727px;">sul</span><span style="line-height: 21.600000381469727px;">la </span><span style="line-height: 21.600000381469727px;">sintomatologia </span><span style="line-height: 21.600000381469727px;">in
persone con </span><span class="s8" style="line-height: 21.600000381469727px;">Phelan-McDermid</span><span class="s8" style="line-height: 21.600000381469727px;"></span><span class="s8" style="line-height: 21.600000381469727px;">S</span><span class="s8" style="line-height: 21.600000381469727px;">yndrome</span><span class="s8" style="line-height: 21.600000381469727px;">. </span><span class="s8" style="line-height: 21.600000381469727px;">Finora
s</span><span class="s8" style="line-height: 21.600000381469727px;">olo pochi studi</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">purtroppo</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">hanno
valutato la prevalenza delle caratteristiche cliniche associate alle regione 22q13. </span><span class="s8" style="line-height: 21.600000381469727px;">A tal proposito, </span><span class="s8" style="line-height: 21.600000381469727px;">gli autori della </span><span class="s8" style="line-height: 21.600000381469727px;">ricerca
francese</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">ha</span><span class="s8" style="line-height: 21.600000381469727px;">nno </span><span class="s8" style="line-height: 21.600000381469727px;">esplorato
le caratteristiche cliniche e </span><span class="s8" style="line-height: 21.600000381469727px;">condotto </span><span class="s8" style="line-height: 21.600000381469727px;">specifiche </span><span class="s8" style="line-height: 21.600000381469727px;">analisi
genomiche </span><span class="s8" style="line-height: 21.600000381469727px;">in</span><span class="s8" style="line-height: 21.600000381469727px;"> 85 </span><span class="s8" style="line-height: 21.600000381469727px;">pazienti</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">(inclusi
due feti) </span><span class="s8" style="line-height: 21.600000381469727px;">con PMS</span><span class="s8" style="line-height: 21.600000381469727px;">.</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">Lo
studio della </span><span class="s8" style="line-height: 21.600000381469727px;">relazione genotipo-fenotipo in pazienti </span><span class="s8" style="line-height: 21.600000381469727px;">con </span><span class="s8" style="line-height: 21.600000381469727px;">PMS
rappresenta un interessante passo avanti e getta solide basi </span><span style="line-height: 21.600000381469727px;">per la valutazione di nuove strategie di trattamento dei PMS e dei disturbi del </span><span style="line-height: 21.600000381469727px;">neurosviluppo</span><span style="line-height: 21.600000381469727px;"> in
generale.</span></span></p>
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<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;">Il</span><span class="s8" style="line-height: 21.600000381469727px;"> primo </span><span class="s8" style="line-height: 21.600000381469727px;">step</span><span class="s8" style="line-height: 21.600000381469727px;"> dello
studio è stato quello di esaminare la struttura </span><span class="s8" style="line-height: 21.600000381469727px;">anatomica </span><span class="s8" style="line-height: 21.600000381469727px;">del cervello di 35 pazienti. S</span><span class="s8" style="line-height: 21.600000381469727px;">fruttando
le potenzialità </span><span class="s8" style="line-height: 21.600000381469727px;">della tecnica MRI, i ricercatori hanno acquisito </span><span class="s8" style="line-height: 21.600000381469727px;">una serie di immagini cerebrali, individuando </span><span class="s8" style="line-height: 21.600000381469727px;">la </span><span class="s8" style="line-height: 21.600000381469727px;">presenza
di anomalie</span><span class="s8" style="line-height: 21.600000381469727px;"></span><span class="s8" style="line-height: 21.600000381469727px;">strutturali nel 65,7% </span><span class="s8" style="line-height: 21.600000381469727px;">dei</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">soggetti.</span><span style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">Successivamente, </span><span class="s8" style="line-height: 21.600000381469727px;">la
ricerca è stata focalizzata </span><span class="s8" style="line-height: 21.600000381469727px;">sui </span><span class="s8" style="line-height: 21.600000381469727px;">riarrangiamenti</span><span class="s8" style="line-height: 21.600000381469727px;"> cromosomici
che caratterizzano la popolazione con PMS. Nell’ampio campione </span><span class="s8" style="line-height: 21.600000381469727px;">di </span><span class="s8" style="line-height: 21.600000381469727px;">questo studio, in 78 pazienti è stata riscontrata</span><span class="s8" style="line-height: 21.600000381469727px;"> una </span><span class="s8" style="line-height: 21.600000381469727px;">delezione</span><span class="s8" style="line-height: 21.600000381469727px;">, </span><span class="s8" style="line-height: 21.600000381469727px;">che
include il gene </span><span class="s8" style="line-height: 21.600000381469727px;">SHANK3</span><span class="s8" style="line-height: 21.600000381469727px;">, </span><span class="s8" style="line-height: 21.600000381469727px;">mentre in altri </span><span class="s8" style="line-height: 21.600000381469727px;">7
una duplicazione</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">della regione </span><span class="s8" style="line-height: 21.600000381469727px;">22q13</span><span class="s8" style="line-height: 21.600000381469727px;">.</span><span class="s8" style="line-height: 21.600000381469727px;"> L</span><span class="s8" style="line-height: 21.600000381469727px;">’ampiezza
de</span><span class="s8" style="line-height: 21.600000381469727px;">i</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">segmenti genomici </span><span class="s8" style="line-height: 21.600000381469727px;">deleti</span><span class="s8" style="line-height: 21.600000381469727px;"> o
duplicati</span><span class="s8" style="line-height: 21.600000381469727px;"> era molto </span><span class="s8" style="line-height: 21.600000381469727px;">diversa</span><span class="s8" style="line-height: 21.600000381469727px;">. Il</span><span class="s8" style="line-height: 21.600000381469727px;"> dato
conferma che </span><span class="s8" style="line-height: 21.600000381469727px;">l’ampia variabilità fenotipica</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">è</span><span class="s8" style="line-height: 21.600000381469727px;"> associata
ad </span><span class="s8" style="line-height: 21.600000381469727px;">un’ampia eterogeneità genomica in pazienti con PMS.</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">Andando
nei dettagli </span><span class="s8" style="line-height: 21.600000381469727px;">della caratterizzazione</span><span class="s8" style="line-height: 21.600000381469727px;"> genomic</span><span class="s8" style="line-height: 21.600000381469727px;">a</span><span class="s8" style="line-height: 21.600000381469727px;">, </span><span class="s8" style="line-height: 21.600000381469727px;">avvalendosi
della </span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;">hierarchical</span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;"></span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;">clustering</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">analisi</span><span style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">il </span><span class="s8" style="line-height: 21.600000381469727px;">team
francese </span><span class="s8" style="line-height: 21.600000381469727px;">ha </span><span class="s8" style="line-height: 21.600000381469727px;">scoperto</span><span style="line-height: 21.600000381469727px;"> che </span><span style="line-height: 21.600000381469727px;">questa
vari</span><span style="line-height: 21.600000381469727px;">a</span><span style="line-height: 21.600000381469727px;">bil</span><span style="line-height: 21.600000381469727px;">i</span><span style="line-height: 21.600000381469727px;">tà </span><span style="line-height: 21.600000381469727px;">genomica </span><span style="line-height: 21.600000381469727px;">può
essere </span><span style="line-height: 21.600000381469727px;">definita</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">in </span><span style="line-height: 21.600000381469727px;">4 </span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;">clusters</span><span style="line-height: 21.600000381469727px;"> differenti</span><span class="s8" style="line-height: 21.600000381469727px;">. </span><span class="s8" style="line-height: 21.600000381469727px;">In
particolare, hanno</span><span class="s8" style="line-height: 21.600000381469727px;"> osservato che la</span><span class="s8" style="line-height: 21.600000381469727px;"> popolazione di pazienti con </span><span class="s8" style="line-height: 21.600000381469727px;">delezioni</span><span class="s8" style="line-height: 21.600000381469727px;"> genomiche
più piccole </span><span class="s8" style="line-height: 21.600000381469727px;">aveva</span><span class="s8" style="line-height: 21.600000381469727px;"> una </span><span class="s8" style="line-height: 21.600000381469727px;">maggiore </span><span class="s8" style="line-height: 21.600000381469727px;">probabilità
di presentare una sintomatologia ASD mentre </span><span class="s8" style="line-height: 21.600000381469727px;">la popolazione </span><span class="s8" style="line-height: 21.600000381469727px;">caratterizzata da </span><span class="s8" style="line-height: 21.600000381469727px;">delezioni</span><span class="s8" style="line-height: 21.600000381469727px;"> più
ampie una simile</span><span class="s8" style="line-height: 21.600000381469727px;"> probabilità </span><span class="s8" style="line-height: 21.600000381469727px;">di </span><span class="s8" style="line-height: 21.600000381469727px;">essere non verbale</span><span class="s8" style="line-height: 21.600000381469727px;">.
La </span><span class="s8" style="line-height: 21.600000381469727px;">“</span><span class="s8" style="line-height: 21.600000381469727px;">taglia</span><span class="s8" style="line-height: 21.600000381469727px;">”</span><span class="s8" style="line-height: 21.600000381469727px;"> della </span><span class="s8" style="line-height: 21.600000381469727px;">delezione</span><span class="s8" style="line-height: 21.600000381469727px;"> 22q13</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> almeno
in parte</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">è</span><span class="s8" style="line-height: 21.600000381469727px;"> in
grado di spiegare la presenza e la severità dei sintomi PMS.</span><span class="s8" style="line-height: 21.600000381469727px;"> Questi risultati </span><span class="s8" style="line-height: 21.600000381469727px;">ancora una volta </span><span class="s8" style="line-height: 21.600000381469727px;">ribadiscono </span><span class="s8" style="line-height: 21.600000381469727px;">che </span><span class="s8" style="line-height: 21.600000381469727px;">una
dettagliat</span><span class="s8" style="line-height: 21.600000381469727px;">a</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">mappatura</span><span class="s8" style="line-height: 21.600000381469727px;"> delle
regioni genomiche </span><span class="s8" style="line-height: 21.600000381469727px;">è fondamentale per identificare il contributo di </span><span style="line-height: 21.600000381469727px;">geni candidati </span><span style="line-height: 21.600000381469727px;">con</span><span style="line-height: 21.600000381469727px;"> un
alto rischio di essere associati a specific</span><span style="line-height: 21.600000381469727px;">i </span><span style="line-height: 21.600000381469727px;">aspetti clinici</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">in
pazienti </span><span class="s8" style="line-height: 21.600000381469727px;">PMS</span><span class="s8" style="line-height: 21.600000381469727px;">. Infine, </span><span class="s8" style="line-height: 21.600000381469727px;">gli studiosi </span><span class="s8" style="line-height: 21.600000381469727px;">avvalendosi
della </span><span style="line-height: 21.600000381469727px;">tecnologia </span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;">array</span><span style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">sono
andati ad identificare </span><span style="line-height: 21.600000381469727px;">le </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">copy </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">number</span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;"> </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">variants</span><span class="s8" style="line-height: 21.600000381469727px;"> (</span><span class="s8" style="line-height: 21.600000381469727px;">CNVs</span><span class="s8" style="line-height: 21.600000381469727px;">). </span><span style="line-height: 21.600000381469727px;">Su
63 soggetti con PMS, ben 41 erano portatori di almeno una CNV nelle sequenze di un gene associato ad una condizione </span><span style="line-height: 21.600000381469727px;">neuropsichiatrica</span><span style="line-height: 21.600000381469727px;">. </span><span style="line-height: 21.600000381469727px;">In
alcuni casi hanno identificato rilevanti </span><span class="s8" style="line-height: 21.600000381469727px;">CNVs</span><span class="s8" style="line-height: 21.600000381469727px;"> in loci associati a rischio di autismo, come ad esempio 16p11.2 e 15q11q13.</span><span style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">Ultima,
ma non meno importante, evidenza </span><span class="s8" style="line-height: 21.600000381469727px;">che conferma </span><span class="s8" style="line-height: 21.600000381469727px;">l’eterogeneità genetica e clinica di pazienti con </span><span class="s8" style="line-height: 21.600000381469727px;">delezione</span><span class="s8" style="line-height: 21.600000381469727px;"> SHANK</span><span class="s8" style="line-height: 21.600000381469727px;">3</span><span class="s8" style="line-height: 21.600000381469727px;">, </span><span class="s8" style="line-height: 21.600000381469727px;">emerge </span><span class="s8" style="line-height: 21.600000381469727px;">dall’analisi
di una </span><span class="s8" style="line-height: 21.600000381469727px;">famiglia </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">multiplex</span><span class="s8" style="line-height: 21.600000381469727px;"> inclusa
nello studio. </span><span class="s8" style="line-height: 21.600000381469727px;">E’</span><span class="s8" style="line-height: 21.600000381469727px;"> stat</span><span class="s8" style="line-height: 21.600000381469727px;">a r</span><span class="s8" style="line-height: 21.600000381469727px;">iportata</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">infatti, </span><span class="s8" style="line-height: 21.600000381469727px;">la
trasmissione ereditaria della </span><span class="s8" style="line-height: 21.600000381469727px;">delezione </span><span class="s8" style="line-height: 21.600000381469727px;">SHANK3 a 5 figlie affette da una madre senza ASD</span><span class="s8" style="line-height: 21.600000381469727px;"> né </span><span class="s8" style="line-height: 21.600000381469727px;">disabilità
intellettiva</span><span class="s8" style="line-height: 21.600000381469727px;">. </span><span class="s8" style="line-height: 21.600000381469727px;">Questo dato è la prova del fatto che in </span><span class="s8" style="line-height: 21.600000381469727px;">alcuni
individui con </span><span class="s8" style="line-height: 21.600000381469727px;">delezione</span><span class="s8" style="line-height: 21.600000381469727px;"> SHANK3 potrebbero esserci meccanismi compensatori che conferiscono resilienza alla mutazione SHANK3. </span></span></p>
<p class="s3" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;">L</span><span class="s8" style="line-height: 21.600000381469727px;">e</span><span class="s8" style="line-height: 21.600000381469727px;"> scopert</span><span class="s8" style="line-height: 21.600000381469727px;">e</span><span class="s8" style="line-height: 21.600000381469727px;"> di
questo studio risultano molto interessanti e </span><span class="s8" style="line-height: 21.600000381469727px;">sostengono l’ipotesi secondo cui i pazienti PMS hanno una complessa architettura genetica in cui </span><span class="s8" style="line-height: 21.600000381469727px;">intervengono</span><span class="s8" style="line-height: 21.600000381469727px;"> diversi
fattori di rischio.</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">Va </span><span style="line-height: 21.600000381469727px;">sottolineato come</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">q</span><span style="line-height: 21.600000381469727px;">uesti </span><span style="line-height: 21.600000381469727px;">risultati</span><span style="line-height: 21.600000381469727px;"> </span><span style="line-height: 21.600000381469727px;">avvalorano</span><span style="line-height: 21.600000381469727px;"> la</span><span style="line-height: 21.600000381469727px;">teoria </span><span class="s9" style="line-height: 21.600000381469727px; font-style: italic;">multiple
hit</span><span style="line-height: 21.600000381469727px;"> gi</span><span style="line-height: 21.600000381469727px;">à</span><span style="line-height: 21.600000381469727px;"> ampiamente sostenuta dalla comunità scientifica</span><span style="line-height: 21.600000381469727px;"> internazionale</span><span style="line-height: 21.600000381469727px;">,
secondo cui diversi loci </span><span style="line-height: 21.600000381469727px;">genici </span><span style="line-height: 21.600000381469727px;">(</span><span style="line-height: 21.600000381469727px;">come</span><span style="line-height: 21.600000381469727px;">anche </span><span style="line-height: 21.600000381469727px;">diversi </span><span style="line-height: 21.600000381469727px;">fattori
ambientali) possono modulare la severità degli aspetti clinici.</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">Più grandi coorti di individui con </span><span class="s8" style="line-height: 21.600000381469727px;">delezion</span><span class="s8" style="line-height: 21.600000381469727px;">i</span><span class="s8" style="line-height: 21.600000381469727px;">/duplicazion</span><span class="s8" style="line-height: 21.600000381469727px;">i</span><span class="s8" style="line-height: 21.600000381469727px;"> 22q13,
su cui condurre </span><span class="s8" style="line-height: 21.600000381469727px;">più</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">dettagliat</span><span class="s8" style="line-height: 21.600000381469727px;">e
analisi di </span><span class="s8" style="line-height: 21.600000381469727px;">fenotipizzazione</span><span class="s8" style="line-height: 21.600000381469727px;"> </span><span class="s8" style="line-height: 21.600000381469727px;">e </span><span class="s8" style="line-height: 21.600000381469727px;">di </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">whole</span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;"> </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">genome</span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;"> </span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;">sequencing</span><span class="s10" style="line-height: 21.600000381469727px; font-style: italic;"> data</span><span class="s8" style="line-height: 21.600000381469727px;">,
potrebbero permette</span><span class="s8" style="line-height: 21.600000381469727px;">r</span><span class="s8" style="line-height: 21.600000381469727px;">ci </span><span class="s8" style="line-height: 21.600000381469727px;">di identificare </span><span class="s8" style="line-height: 21.600000381469727px;">in
futuro, </span><span class="s8" style="line-height: 21.600000381469727px;">non solo i geni</span><span class="s8" style="line-height: 21.600000381469727px;">,</span><span class="s8" style="line-height: 21.600000381469727px;">ma anche i sottostanti meccanismi
compensatori</span><span class="s8" style="line-height: 21.600000381469727px;">, associati a specifici aspetti clinici di PMS.</span><span class="s8" style="line-height: 21.600000381469727px;"> La comprensione dell’eziologia dei PMS ha come scopo quello di
raggiungere possibili trattamenti per pazienti con disturbi del </span><span class="s8" style="line-height: 21.600000381469727px;">neurosviluppo</span><span class="s8" style="line-height: 21.600000381469727px;">.</span></span></p>
<p class="s3" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;"><br>
</span></span></p>
<p class="s3" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;">Un caro saluto,</span></span></p>
<p class="s3" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;">Maria Luisa Scattoni</span></span></p>
<p class="s3" style="text-align: start; margin-top: 0px; margin-bottom: 0px; line-height: 1.2;">
<span style="background-color: rgba(255, 255, 255, 0);"><span class="s8" style="line-height: 21.600000381469727px;">Angela Caruso</span></span></p>
<br>
<div id="AppleMailSignature">
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;"><span style="background-color: rgba(255, 255, 255, 0);">Maria Luisa Scattoni, PhD</span></p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;"><span lang="EN-US" style="background-color: rgba(255, 255, 255, 0);">Research Coordination and Support Service</span></p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;"><span style="background-color: rgba(255, 255, 255, 0);">Istituto Superiore di Sanità</span></p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;">Viale Regina Elena 299,</p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;">00161 Rome, Italy</p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;">Tel: +39-0649903143</p>
<p class="MsoNormal" style="margin: 0cm 0cm 0.0001pt;"><span style="background-color: rgba(255, 255, 255, 0);"><font>E-mail:
<a href="mailto:marialuisa.scattoni@iss.it">marialuisa.scattoni@iss.it</a></font></span></p>
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<div id="yiv6514726061yui_3_16_0_ym19_1_1509084254496_13038" dir="ltr"><a rel="nofollow" target="_blank" href="https://www.nature.com/articles/s41525-017-0035-2" class="yiv6514726061enhancr2_baf024cb-90b2-9688-de33-931358088219" id="yiv6514726061yui_3_16_0_ym19_1_1509084254496_13058">A
framework to identify contributing genes in patients with Phelan-McDermid syndrome</a><br>
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome</h2>
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<p>Multiple chromosomal changes may impact the severity of symptoms in people with Phelan-McDermid syndrom...</div>
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