Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies
ASD
CAPG
PSD proteins
VDAC3
autism spectrum disorder
postsynaptic density proteins
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
07 02 2019
07 02 2019
Historique:
received:
15
01
2019
revised:
04
02
2019
accepted:
05
02
2019
entrez:
10
2
2019
pubmed:
10
2
2019
medline:
10
2
2019
Statut:
epublish
Résumé
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving
Identifiants
pubmed: 30736458
pii: jcm8020212
doi: 10.3390/jcm8020212
pmc: PMC6406497
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Fondazione Banco di Sardegna
ID : 1175/2009.0470
Pays : International
Organisme : Associazione Italiana Studio Malformazioni (ASM)
ID : 2010
Pays : International
Organisme : Fondo per la Ricerca Locale (ex 60%), Università di Cagliari
ID : 2010-2018
Pays : International
Organisme : Fondo per la Ricerca Fondamentale Orientata (ex quota 60%), Università di Bologna
ID : 2010-2018
Pays : International
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