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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
- Source :
- neurogenetics, 22, 263-269. SPRINGER, Neurogenetics
- Publication Year :
- 2021
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
Ankyrins
Male
Adolescent
Autism Spectrum Disorder
Developmental delay
Mutation, Missense
Intellectual disability
Loss of Heterozygosity
Biology
Ankyrin-G
ANK3
Frameshift mutation
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Genetics
medicine
Missense mutation
Humans
Protein Isoforms
Child
Genetics (clinical)
Loss function
Isoform-based phenotypic continuum
medicine.disease
Phenotype
Human genetics
Zygosity
030104 developmental biology
Autism spectrum disorder
Neurodevelopmental Disorders
Original Article
Technology Platforms
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- neurogenetics, 22, 263-269. SPRINGER, Neurogenetics
- Accession number :
- edsair.doi.dedup.....a29e38a006cc3143802fb9a4d475d961