title: Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
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.
authors.affiliation: Department of Molecular Medicine, IRCCS Children's Hospital Bambino Gesù, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: C
authors.initials: C
authors.lastname: Rizzo
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: P
authors.initials: P
authors.lastname: Borrelli
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: F
authors.initials: F
authors.lastname: Piemonte
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005220:Fathers; D005347:Fibroblasts / Q000378:metabolism; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009035:Mothers; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology* / Q000235:genetics*
chemical_list: D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase