Title
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Paris ,
Subject
Human medicine
Source (journal)
European journal of medical genetics. - Paris
Volume/pages
56(2013) :5 , p. 266-269
ISSN
1769-7212
1769-7212
ISI
000324893100008
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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. (C) 2013 Elsevier Masson SAS. All rights reserved.
E-info
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