[article] 
inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041

Titre :	Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur
Article en page(s) :	p.5033-5041
Langues :	Anglais (eng)
Mots-clés :	Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4
Index. décimale :	PER Périodiques
Résumé :	Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05365-2
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

[article] Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients [Texte imprimé et/ou numérique] / Yanyan QIAN, Auteur ; Yuanfeng ZHOU, Auteur ; Bingbing WU, Auteur ; Huiyao CHEN, Auteur ; Suzhen XU, Auteur ; Yao WANG, Auteur ; Ping ZHANG, Auteur ; Gang LI, Auteur ; Qiong XU, Auteur ; Wenhao ZHOU, Auteur ; Xiu XU, Auteur ; Huijun WANG, Auteur . - p.5033-5041.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.5033-5041

Mots-clés :	Abnormalities, Multiple  Autism Spectrum Disorder  Autistic Disorder/genetics  China  Chromatin  DNA Helicases/genetics  Face/abnormalities  Hand Deformities, Congenital  Humans  Intellectual Disability/genetics  Micrognathism  Neck/abnormalities  Nuclear Proteins/genetics  Transcription Factors/genetics  Autism spectrum disorder  Coffin-Siris syndrome  Neurodevelopmental-related disorders  Phenotype  Smarca4
Index. décimale :	PER Périodiques
Résumé :	Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. SMARCA4 is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the SMARCA4 gene from eight pediatric patients. All eight patients had moderate to severe intellectual disability, and seven showed autistic/likely autistic features. Compared with the patients reported in the literature, our patients were less likely to show craniofacial or finger/toe anomalies. Our findings further supported that SMARCA4 is associated with ASDs. We suggest that individuals with the abovementioned phenotypes should consider genetic testing.
En ligne :	http://dx.doi.org/10.1007/s10803-021-05365-2
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489