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| Item Type: | Article |
|---|---|
| Title: | ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants |
| Creators Name: | Kloth, K. and Lozic, B. and Tagoe, J. and Hoffer, M.J.V. and Van der Ven, A. and Thiele, H. and Altmüller, J. and Kubisch, C. and Au, P.Y.B. and Denecke, J. and Bijlsma, E.K. and Lessel, D. |
| 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. |
| Keywords: | ANK3, Ankyrin-G, Isoform-Based Phenotypic Continuum, Intellectual Disability, Developmental Delay |
| Source: | Neurogenetics |
| ISSN: | 1364-6745 |
| Publisher: | Springer |
| Volume: | 22 |
| Number: | 4 |
| Page Range: | 263-269 |
| Date: | October 2021 |
| Official Publication: | https://doi.org/10.1007/s10048-021-00655-4 |
| PubMed: | View item in PubMed |
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