title: A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
abstract: BACKGROUND
  Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20,000-60,000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis.
  
  
  METHODS
  We analyzed by direct sequencing the 7-dehydrocholesterol reductase gene (DHCR7) in a Sicilian patient with Smith-Lemli-Opitz syndrome and his parents in order to characterize the molecular defect.
  
  
  RESULTS
  The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS.
  
  
  CONCLUSIONS
  The present study describes a Sicilian patient, a carrier of a novel mutation of the DHCR7 gene (I251N), which is responsible in a compound heterozygous state for a severe form of SLOS.
authors.affiliation: Department of Biomedical Sciences, Section of Clinical Pathology and Molecular Oncology, University of Catania, Catania, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Romano
authors.forename: Barbara
authors.initials: B
authors.lastname: Fiore
authors.forename: Franca Maria
authors.initials: FM
authors.lastname: Pezzino
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Longombardo
authors.forename: Angelo Baldassare
authors.initials: AB
authors.lastname: Cefalù
authors.forename: Davide
authors.initials: D
authors.lastname: Noto
authors.forename: Ambra
authors.initials: A
authors.lastname: Puglisi
authors.forename: Alfio
authors.initials: A
authors.lastname: Brogna
authors.forename: Teresa
authors.initials: T
authors.lastname: Mattina
authors.forename: Maurizio
authors.initials: M
authors.lastname: Averna
authors.forename: Salvatore
authors.initials: S
authors.lastname: Travali
mesh_terms: D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D010375:Pedigree; D012802:Sicily; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase