[article] 
inJournal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770

Titre :	Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur
Article en page(s) :	p.3764-3770
Langues :	Anglais (eng)
Mots-clés :	Autism spectrum disorder  Autism  SETD2  Intellectual disability  Whole exome sequencing
Index. décimale :	PER Périodiques
Résumé :	Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2.
En ligne :	http://dx.doi.org/10.1007/s10803-015-2484-8
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270

[article] Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy [Texte imprimé et/ou numérique] / Heidi S. LUMISH, Auteur ; Julia WYNN, Auteur ; Orrin DEVINSKY, Auteur ; Wendy K. CHUNG, Auteur . - p.3764-3770.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770

Mots-clés :	Autism spectrum disorder  Autism  SETD2  Intellectual disability  Whole exome sequencing
Index. décimale :	PER Périodiques
Résumé :	Whole exome sequencing (WES) has been utilized with increasing frequency to identify mutations underlying rare diseases. Autism spectrum disorders (ASD) and intellectual disability (ID) are genetically heterogeneous, and novel genes for these disorders are rapidly being identified, making these disorders ideal candidates for WES. Here we report a 17-year-old girl with ASD, developmental delay, ID, seizures, Chiari I malformation, macrocephaly, and short stature. She was found by WES to have a de novo c.2028delT (P677LfsX19) mutation in the SET domain-containing protein 2 (SETD2) gene, predicted to be gene-damaging. This case offers evidence for the potential the role of SETD2 in ASD and ID and provides further detail about the phenotypic manifestations of mutations in SETD2.
En ligne :	http://dx.doi.org/10.1007/s10803-015-2484-8
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270