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NDP gene mutations in 14 French families with Norrie disease

Authors

  • Ghislaine Royer,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Sylvain Hanein,

    1. INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Valérie Raclin,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Nadine Gigarel,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Jean-Michel Rozet,

    1. INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Arnold Munnich,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
    2. INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Julie Steffann,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Jean-Louis Dufier,

    1. Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Josseline Kaplan,

    1. Department of Genetics INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
    2. INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
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  • Jean-Paul Bonnefont

    Corresponding author
    1. INSERM Unit U393 Ophthalmology Unit and Genetic Biochemistry Unit, Necker Hospital, Paris, France
    2. Genetic Biochemistry Unit, Necker Hospital, Paris, France
    • Service de Biochimie génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France
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Abstract

Norrie disease is a rare X-inked recessive condition characterized by congenital blindness and occasionally deafness and mental retardation in males. This disease has been ascribed to mutations in the NDP gene on chromosome Xp11.1. Previous investigations of the NDP gene have identified largely sixty disease-causing sequence variants. Here, we report on ten different NDP gene allelic variants in fourteen of a series of 21 families fulfilling inclusion criteria. Two alterations were intragenic deletions and eight were nucleotide substitutions or splicing variants, six of them being hitherto unreported, namely c.112C>T (p.Arg38Cys), c.129C>G (p.His43Gln), c.133G>A (p.Val45Met), c.268C>T (p.Arg90Cys), c.382T>C (p.Cys128Arg), c.23479-1G>C (unknown). No NDP gene sequence variant was found in seven of the 21 families. This observation raises the issue of misdiagnosis, phenocopies, or existence of other X-linked or autosomal genes, the mutations of which would mimic the Norrie disease phenotype. © 2003 Wiley-Liss, Inc.

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