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Article

A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.

American journal of medical genetics. Part A - 1 Apr 2022

Sakaria Rishika P, Fonville Megan P, Peravali Silpa, Zaveri Parul G, Mroczkowski Henry J, Caron Elena, Weems Mark F

Abstract excerpt

The DST gene is located on chromosome 6p and encodes for a large protein. Alternative splicing of this protein produces the neuronal (a1-a3), muscular (b1-b3), and epithelial (e) isoforms. Hereditary sensory and autonomic neuropathy (HSAN) type VI is a rare autosomal recessive disorder due to mutations affecting the a2 isoform. We present a case of HSAN-VI in a male neonate born to consanguineous parents. Genome...

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Identifiers

PMID: 34897952
DOI: 10.1002/ajmg.a.62609

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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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