This article was prepared by a group consisting of both United States Government employees and non–United States Government employees, and as such is subject to 17 U.S.C. Sec. 105.
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome†
Article first published online: 28 JUN 2001
Published 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 102, Issue 4, pages 383–386, 1 September 2001
How to Cite
Nowaczyk, M. J.M., Nakamura, L. M., Eng, B., Porter, F. D. and Waye, J. S. (2001), Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. Am. J. Med. Genet., 102: 383–386. doi: 10.1002/ajmg.1441
- Issue published online: 1 AUG 2001
- Article first published online: 28 JUN 2001
- Manuscript Accepted: 3 APR 2001
- Manuscript Received: 19 MAR 2001
- Hamilton Health Foundation
- Smith-Lemli-Opitz syndrome;
- DHCR7 mutations;
- carrier frequency;
- population genetics
Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3β-hydroxysterol-Δ7-reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common SLOS mutation (IVS8-1GC). Twenty-four heterozygotes of the IVS8-1GC mutation were detected in 2,978 individuals of European Caucasian and Black backgrounds. For European Caucasians, the carrier rate for SLOS may be as high as 1 in 30, suggesting an incidence of 1 in 1,700 to 1 in 13,400. This high number is supported by the recent observation of newborn and prenatal incidence of 1 in 22,000 in the Caucasian population. Ours is the first report of the IVS8-1GC mutation in persons of African ancestry. Published 2001 Wiley-Liss, Inc.