title: SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
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.
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Verhoeven
authors.forename: K
authors.initials: K
authors.lastname: Coen
authors.forename: E
authors.initials: E
authors.lastname: De Vriendt
authors.forename: A
authors.initials: A
authors.lastname: Jacobs
authors.forename: V
authors.initials: V
authors.lastname: Van Gerwen
authors.forename: I
authors.initials: I
authors.lastname: Smouts
authors.forename: A
authors.initials: A
authors.lastname: Pou-Serradell
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: D000214:Acyl Coenzyme A / Q000378:metabolism; D000217:Acyltransferases / Q000235:genetics*; D001530:Belgium; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D021122:Protein Subunits / Q000235:genetics; D012694:Serine / Q000378:metabolism; D051102:Serine C-Palmitoyltransferase; D013110:Sphingosine / Q000031:analogs & derivatives* / Q000096:biosynthesis
chemical_list: D000214:Acyl Coenzyme A; D021122:Protein Subunits; C002882:ketodihydrosphingosine; D012694:Serine; D000217:Acyltransferases; C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase; D013110:Sphingosine