Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Autism Spectrum Disorder
/ genetics
Autistic Disorder
/ genetics
Child
Child, Preschool
DNA Copy Number Variations
DNA Mutational Analysis
Female
Gene Dosage
Genetic Linkage
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Infant
Male
Mutation
Nerve Tissue Proteins
/ genetics
Pedigree
Phenotype
Risk Factors
Synapses
/ metabolism
Whole Genome Sequencing
autism spectrum disorder (ASD)
copy number variants (CNVs)
extended pedigrees
heritable genetics
Journal
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
ISSN: 1552-485X
Titre abrégé: Am J Med Genet B Neuropsychiatr Genet
Pays: United States
ID NLM: 101235742
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
10
05
2019
revised:
05
11
2019
accepted:
03
03
2020
pubmed:
7
5
2020
medline:
17
2
2021
entrez:
7
5
2020
Statut:
ppublish
Résumé
Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not well understood. In this study, nine extended pedigrees each with three or more individuals with ASD, and others with a lesser autism phenotype, were phenotyped and genotyped in an attempt to identify heritable copy number variants (CNVs). Although these families have previously generated linkage signals, no rare CNV segregated with these signals in any family. A small number of clinically relevant CNVs were identified. Only one CNV was identified that segregated with ASD phenotype; namely, a duplication overlapping DLGAP2 in three male offspring each with an ASD diagnosis. This gene encodes a synaptic scaffolding protein, part of a group of proteins known to be pathologically implicated in ASD. On the whole, however, the heritable nature of ASD in the families studied remains poorly understood.
Identifiants
pubmed: 32372567
doi: 10.1002/ajmg.b.32785
doi:
Substances chimiques
DLGAP2 protein, human
0
Nerve Tissue Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
268-276Subventions
Organisme : NIH Clinical Center
ID : HD003110
Pays : International
Organisme : NIH Clinical Center
ID : MH076028
Pays : International
Organisme : NIH Clinical Center
ID : MH086117
Pays : International
Organisme : CIHR
ID : 79499
Pays : Canada
Organisme : CIHR
ID : 89777
Pays : Canada
Informations de copyright
© 2020 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc.
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