Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q.

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. Recently, mutations in the gene encoding 7-dehydrocholesterol reductase (7DHCR) were found to cause SLOS. We report the first molecular characterization of an Italian SLOS patient. Interestingly, his paternal 7DHCR allele, of Arab origin, harbored a novel P329L mutation which in combination with a maternal splice-site (IVS8-1 G>C) mutation resulted in a relatively milder phenotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Alleles
  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • Fathers
  • Fibroblasts / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Male
  • Molecular Sequence Data
  • Mothers
  • Mutation*
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Phenotype
  • Polymorphism, Restriction Fragment Length
  • Reverse Transcriptase Polymerase Chain Reaction
  • Smith-Lemli-Opitz Syndrome / enzymology*
  • Smith-Lemli-Opitz Syndrome / genetics*

Substances

  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase