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Article

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

European journal of medical genetics - 1 Sept 2017

Kloth Katja, Denecke Jonas, Hempel Maja, Johannsen Jessika, Strom Tim M, Kubisch Christian, Lessel Davor

Abstract excerpt

Ankyrin-G, encoded by ANK3, plays an important role in neurodevelopment and neuronal function. There are multiple isoforms of Ankyrin-G resulting in differential tissue expression and function. Heterozygous missense mutations in ANK3 have been associated with autism spectrum disorder. Further, in three siblings a homozygous frameshift mutation affecting only the longest isoform and a patient with a balanced...

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Source

Identifiers

PMID: 28687526
DOI: 10.1016/j.ejmg.2017.07.001

Genes

ANK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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