De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
ARHGEF9
Autism spectrum disorder
De novo
Epilepsy
Neurodevelopmental disorder
X-inactivation
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
17
05
2020
accepted:
21
07
2020
pubmed:
18
9
2020
medline:
19
11
2021
entrez:
17
9
2020
Statut:
ppublish
Résumé
Individuals harboring pathogenic variants in ARHGEF9, encoding an essential submembrane protein for gamma-aminobutyric acid (GABA)-ergic synapses named collybistin, show intellectual disability (ID), facial dysmorphism, behavioral disorders, and epilepsy. Only few affected females carrying large chromosomal rearrangements involving ARHGEF9 have been reported so far. Through next-generation sequencing (NGS)-based panels, we identified two single nucleotide variants (SNVs) in ARHGEF9 in two females with neurodevelopmental features. Sanger sequencing revealed that these variants were de novo. The X-inactivation pattern in peripheral blood cells was random. We report the first affected females harboring de novo SNVs in ARHGEF9, expanding the genotypic and phenotypic spectrum of ARHGEF9-related neurodevelopmental disorder in females.
Identifiants
pubmed: 32939676
doi: 10.1007/s10048-020-00622-5
pii: 10.1007/s10048-020-00622-5
doi:
Substances chimiques
ARHGEF9 protein, human
0
Rho Guanine Nucleotide Exchange Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
87-94Références
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