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Mutation analysis of B3GALTL in Peters Plus syndrome

Authors

  • Linda M. Reis,

    1. Division of Human Molecular Embryology, Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin
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  • Rebecca C. Tyler,

    1. Division of Human Molecular Embryology, Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin
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  • Omar Abdul-Rahman,

    1. Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, Mississippi
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  • Pamela Trapane,

    1. Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin
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  • Robert Wallerstein,

    1. Genetics Service, Joseph M Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, New Jersey
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  • Diane Broome,

    1. Southern California Permanente Medical Group, Anaheim, California
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  • Jodi Hoffman,

    1. Division of Genetics, Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts
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  • Aneal Khan,

    1. Department of Pediatrics and Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada
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  • Christina Paradiso,

    1. Department of Pediatrics, New York Methodist Hospital, Brooklyn, New York
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  • Nitin Ron,

    1. Genetic Services, Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada
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  • Amanda Bergner,

    1. Johns Hopkins Genetics, Baltimore, Maryland
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  • Elena V. Semina

    Corresponding author
    1. Division of Human Molecular Embryology, Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin
    2. Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin
    • C3520, Translational and Biomedical Research Center, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226-0509.
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  • How to cite this article: Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. 2008. Mutation analysis of B3GALTL in Peters Plus syndrome. Am J Med Genet Part A 146A:2603–2610.

Abstract

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the β1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660 + 1G > A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition. © 2008 Wiley-Liss, Inc.

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