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Article

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.

European journal of medical genetics - 1 May 2013

Auer-Grumbach Michaela, Bode Heiko, Pieber Thomas R, Schabhüttl Maria, Fischer Dirk, Seidl Rainer, Graf Elisabeth, Wieland Thomas, Schuh Reinhard, Vacariu Gerda, Grill Franz, Timmerman Vincent, Strom Tim M, Hornemann Thorsten

Abstract excerpt

Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable...

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Identifiers

PMID: 23454272
DOI: 10.1016/j.ejmg.2013.02.002
PMCID: PMC3682180

Genes

SPTLC1

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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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