Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

Authors

  • Małgorzata J.M. Nowaczyk,

    Corresponding author
    1. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    2. Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada
    3. Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
    • Room 3N16, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8S 4JP, Canada.
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  • Lisa M. Nakamura,

    1. Department of Biology, McMaster University, Hamilton, Ontario, Canada
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  • Barry Eng,

    1. Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
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  • Forbes D. Porter,

    1. Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland
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  • John S. Waye

    1. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    2. Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
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  • 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.

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.

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