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Auer-Grumbach, M.* ; Bode, H.* ; Pieber, T.R.* ; Schabhüttl, M.* ; Fischer, D.* ; Seidl, R.* ; Graf, E. ; Wieland, T. ; Schuh, R.* ; Vacariu, G.* ; Grill, F.* ; Timmerman, V.* ; Strom, T.M. ; Hornemann, T.*

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

Eur. J. Med. Genet. 56, 266-269 (2013)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords HSN; HSAN; SPTLC1; Cataract; Hereditary neuropathy; Neuropathy Type-i ; Serine Palmitoyltransferase ; Autonomic Neuropathies ; Hereditary
Language english
Publication Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 1769-7212
e-ISSN 1729-7212
Journal European Journal of Medical Genetics
Quellenangaben Volume: 56, Issue: 5, Pages: 266-269 Article Number: , Supplement: ,
Publisher Elsevier
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1016/j.ejmg.2013.02.002,S1769-7212(13)00036-0
WOS ID WOS:000324893100008
PubMed ID 23454272
Erfassungsdatum 2013-07-30
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