ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
ANK3
Ankyrin-G
Developmental delay
Intellectual disability
Isoform-based phenotypic continuum
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
01
05
2021
accepted:
20
06
2021
pubmed:
5
7
2021
medline:
4
2
2022
entrez:
4
7
2021
Statut:
ppublish
Résumé
ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.
Identifiants
pubmed: 34218362
doi: 10.1007/s10048-021-00655-4
pii: 10.1007/s10048-021-00655-4
pmc: PMC8426245
doi:
Substances chimiques
ANK3 protein, human
0
Ankyrins
0
Protein Isoforms
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
263-269Informations de copyright
© 2021. The Author(s).
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