SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
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Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Neurology. 2004 Mar 23;62(6):1001-2.
- PubMed ID
- 15037712 [ View in PubMed]
- Abstract
Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160G-->C; p.G387A) in twin sisters with a severe HSN I phenotype is reported.