SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
case_report · Level V
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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.
Medical subject headings
- Acyltransferases
- Hereditary Sensory and Autonomic Neuropathies
- Sphingosine