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Détail de l'auteur
Auteur Heidi S. LUMISH |
Documents disponibles écrits par cet auteur (1)
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Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy / Heidi S. LUMISH in Journal of Autism and Developmental Disorders, 45-11 (November 2015)
[article]
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
in Journal of Autism and Developmental Disorders > 45-11 (November 2015) . - p.3764-3770[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