title: Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
abstract: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations. Here, we report the identification of nine novel missense mutations of the DHCR7 gene.
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
authors.forename: Patrycja A
authors.initials: PA
authors.lastname: Krakowiak
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Wassif
authors.forename: Allison L
authors.initials: AL
authors.lastname: Sterner
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000235:genetics*
chemical_list: D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase