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Article

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Annals of neurology - 1 Apr 2012

Edvardson Simon, Cinnamon Yuval, Jalas Chaim, Shaag Avraham, Maayan Channa, Axelrod Felicia B, Elpeleg Orly

Abstract excerpt

In 4 infants with a new lethal autonomic sensory neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identified a deleterious mutation in the DST gene, using homozygosity mapping followed by exome sequencing. DST encodes dystonin, a cytoskeleton linker protein, and the mutation results in an unstable transcript. Interestingly, dystonin is significantly more abundant in...

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Source

Identifiers

PMID: 22522446
DOI: 10.1002/ana.23524

Genes

DST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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