Frequency and ethnic distribution of the common DHCR7 mutation in Smith‐Lemli‐Opitz syndrome |
| |
| Authors: | Lisa M Nakamura Barry Eng Forbes D Porter John S Waye |
| |
| Institution: | 1. Department of Biology, McMaster University, Hamilton, Ontario, Canada;2. Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada;3. Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland;4. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada |
| |
| Abstract: | 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 (IVS8‐1G→C). Twenty‐four heterozygotes of the IVS8‐1G→C 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 IVS8‐1G→C mutation in persons of African ancestry. Published 2001 Wiley‐Liss, Inc. |
| |
| Keywords: | Smith‐Lemli‐Opitz syndrome DHCR7 mutations carrier frequency population genetics |
|
|
