title: A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.
abstract: OBJECTIVE
  To analyze the 3beta-hydroxysteroid dehydrogenase (NSDHL) gene in verruciform xanthoma (VX) to elucidate its potential role in the histogenesis of this lesion.
  
  
  METHODS
  DNA was extracted from paraffin-embedded tissue, followed by polymerase chain reaction amplification of exons 4 and 6 of the NSDHL gene. The polymerase chain reaction products were then directly sequenced and analyzed for the presence of somatic mutations.
  
  
  METHODS
  Nine lesions of VX from 8 patients and 3 unrelated normal controls were evaluated.
  
  
  RESULTS
  Two of 9 VXs (22%) demonstrated a novel somatic missense mutation in exon 6 of the NSDHL gene. The mutation was not present in the remaining 7 lesions of VX, nonlesional internal controls, and 3 unrelated normal controls. No mutation of exon 4 was found in any case. Mutations of exons 4 and 6 previously identified in CHILD syndrome were not seen in our cases.
  
  
  CONCLUSIONS
  (1) A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic VXs. (2) Known CHILD syndrome mutations in exons 4 and 6 of the NSDHL gene do not contribute to the histogenesis of sporadic VXs.
authors.affiliation: Department of Pathology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio 44109, USA.
authors.forename: Shveta
authors.initials: S
authors.lastname: Mehra
authors.forename: Liwen
authors.initials: L
authors.lastname: Li
authors.forename: Chun-Yang
authors.initials: CY
authors.lastname: Fan
authors.forename: Bruce
authors.initials: B
authors.lastname: Smoller
authors.forename: Michael
authors.initials: M
authors.lastname: Morgan
authors.forename: Stephen
authors.initials: S
authors.lastname: Somach
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000235:genetics*; D000225:Adenine; D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine; D001483:Base Sequence; D005091:Exons; D005260:Female; D006147:Guanine; D006639:Histidine; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D012878:Skin Neoplasms / Q000235:genetics*; D014973:Xanthomatosis / Q000235:genetics*
chemical_list: D006639:Histidine; D006147:Guanine; D001120:Arginine; D015096:3-Hydroxysteroid Dehydrogenases; C478776:Nsdhl protein, human; D000225:Adenine