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

✍ Scribed by Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Piemonte, F.; Bertini, E.; Dionisi-Vici, C.; Santorelli, F.M.

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 12 KB
• Volume: 91
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q

✦ Synopsis

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 ⌬7 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.