Mutations at Ser331 in the HSN Type I Gene SPTLC1 Are Associated with a Distinct Syndromic Phenotype

Overview

Journal Eur J Med Genet

Publisher Elsevier

Specialty Genetics

Date 2013 Mar 5

PMID 23454272

Citations 25

Authors

Michaela Auer-Grumbach

Heiko Bode

Thomas R Pieber

Maria Schabhuttl

Dirk Fischer

Rainer Seidl

Elisabeth Graf

Thomas Wieland

Reinhard Schuh

Gerda Vacariu

Franz Grill

Vincent Timmerman

Tim M Strom

Thorsten Hornemann

Affiliations

Soon will be listed here.

Abstract

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 growth retardation. Normal plasma sphingolipids were unchanged but 1-deoxy-sphingolipids were significantly elevated. In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome.

Citing Articles

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