Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype
Article first published online: 4 JAN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 108, Issue 1, pages 64–68, 15 February 2002
How to Cite
Prasad, C., Marles, S., Prasad, A. N., Nikkel, S., Longstaffe, S., Peabody, D., Eng, B., Wright, S., Waye, J. S. and Nowaczyk, M. J.M. (2002), Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype. Am. J. Med. Genet., 108: 64–68. doi: 10.1002/ajmg.10211
- Issue published online: 16 JAN 2002
- Article first published online: 4 JAN 2002
- Manuscript Accepted: 29 OCT 2001
- Manuscript Received: 10 MAY 2001
- Smith-Lemli-Opitz syndrome;
- DHCR7 mutations;
- autism spectrum behaviors
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 3β-hydroxysterol Δ7-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 μmol/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. © 2002 Wiley-Liss, Inc.