ketodihydrosphingosine and Hereditary-Sensory-and-Autonomic-Neuropathies

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.

Topics: Acyl Coenzyme A; Acyltransferases; Belgium; Chromosome Mapping; Chromosomes, Human, Pair 9; Disease Progression; DNA Mutational Analysis; Exons; Female; Genes, Dominant; Hereditary Sensory and Autonomic Neuropathies; Humans; Middle Aged; Mutation; Pedigree; Protein Subunits; Serine; Serine C-Palmitoyltransferase; Sphingosine