SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I
2004; Lippincott Williams & Wilkins; Volume: 62; Issue: 6 Linguagem: Inglês
10.1212/01.wnl.0000115388.10828.5c
ISSN1526-632X
AutoresK. Verhoeven, Katrien Coen, Els De Vriendt, Alice K. Jacobs, Veerle Van Gerwen, Iris Smouts, A Pou-Serradell, Judith Martin, Vincent Timmerman, Peter De Jonghe,
Tópico(s)Endoplasmic Reticulum Stress and Disease
ResumoHereditary 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.
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