Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.
Adult
Aged
Atrophy
/ genetics
Cerebellar Ataxia
/ genetics
Consanguinity
DNA Copy Number Variations
/ genetics
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Intellectual Disability
/ genetics
Male
Middle Aged
Nerve Tissue Proteins
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Siblings
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
19
06
2018
accepted:
04
12
2018
revised:
15
11
2018
pubmed:
20
1
2019
medline:
17
6
2020
entrez:
20
1
2019
Statut:
ppublish
Résumé
In recent years, chromosomal microarray analysis has permitted the discovery of rearrangements underlying several neurodevelopmental disorders and still represents the first diagnostic test for unexplained neurodevelopmental disabilities. Here we report a family of consanguineous parents showing psychiatric disorders and their two sons both affected by intellectual disability, ataxia, and behavioral disorder. SNP/CGH array analysis in this family demonstrated in both siblings a biallelic duplication inherited from the heterozygous parents, disrupting the ADGRB3 gene. ADGRB3, also known as BAI3, belongs to the subfamily of adhesion G protein-coupled receptors (adhesion GPCRs) that regulate many aspects of the central nervous system, including axon guidance, myelination, and synapse formation. Single nucleotide polymorphisms and copy number variants involving ADGRB3 have recently been associated with psychiatric disorders. These findings further support this association and also suggest that biallelic variants affecting the function of the ADGRB3 gene may also cause cognitive impairments and ataxia.
Identifiants
pubmed: 30659260
doi: 10.1038/s41431-018-0321-1
pii: 10.1038/s41431-018-0321-1
pmc: PMC6460634
doi:
Substances chimiques
ADGRB3 protein, human
0
Nerve Tissue Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
594-602Références
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