Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
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| Abstract |
Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIM, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in DHCR7. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2-3 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol/L (normal 2.97-4.40 mmol/L). Elevated plasma 7-dehydrocholesterol level of 200.0 micromol/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8-1G -->C and Y280C, a new missense mutation in DHCR7. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype.
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| Authors | Chitra Prasad, Sandra Marles, Asuri N Prasad, Sarah Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S Waye, Małgorzata J M Nowaczyk |
| Journal | American journal of medical genetics (Am J Med Genet) Vol. 108 Issue 1 Pg. 64-8 (Feb 15 2002) ISSN: 0148-7299 [Print] United States |
| PMID | 11857552 (Publication Type: Journal Article) |
| Copyright | Copyright 2002 Wiley-Liss, Inc. |
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