title: Mutational spectrum of Smith-Lemli-Opitz syndrome.
abstract: Smith-Lemli-Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies. SLOS is caused by mutations in the DHCR7 gene, which encodes 7-dehydrocholesterol reductase, the enzyme that catalyzes the final step in cholesterol biosynthesis. We report on 154 currently known mutations in DHCR7 identified in patients affected with SLOS and discuss their coding consequences. These 154 mutations include 130 missense, 8 nonsense, 8 deletions, 2 insertions, 1 indel, and 5 splice site mutations. Using information available from published case reports and from patients identified in our clinical diagnostic laboratory, we analyzed correlations between genotype, clinical presentation and 7-dehydrocholesterol level.
authors.affiliation: Laboratory Genetic Metabolic Diseases (F0-222), Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands. h.r.waterham@amc.uva.nl
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D003684:Dehydrocholesterols / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D012720:Severity of Illness Index; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics* / Q000503:physiopathology
chemical_list: D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase