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Title
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Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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European journal of medical genetics. - Paris
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Publication
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Paris
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2013
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ISSN
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1769-7212
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DOI
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10.1016/J.EJMG.2013.02.002
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Volume/pages
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56
:5
(2013)
, p. 266-269
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ISI
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000324893100008
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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