期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 56, 期 5, 页码 266-269出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2013.02.002
关键词
HSN; HSAN; SPTLC1; Cataract; Hereditary neuropathy
资金
- Austrian Science Fund [FWF P23223-B19]
- Austrian Science Fund (FWF) [P 23223] Funding Source: researchfish
- Austrian Science Fund (FWF) [P23223] Funding Source: Austrian Science Fund (FWF)
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.
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