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Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

Authors

  • E. Schaefer,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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    • Both the authors contributed equally to this work
  • J. Lauer,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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    • Both the authors contributed equally to this work
  • M. Durand,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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  • V. Pelletier,

    1. Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO)
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  • C. Obringer,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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  • A. Claussmann,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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  • J.-J. Braun,

    1. Service Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
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  • C. Redin,

    1. Département de Neurobiologie et Génétique, Laboratoire de Bioinformatique et Génomique Intégratives, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch-Graffenstaden, France
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  • C. Mathis,

    1. Centre d'Investigation Clinique de Strasbourg, CIC-P 1002
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  • J. Muller,

    1. Département de Neurobiologie et Génétique, Laboratoire de Bioinformatique et Génomique Intégratives, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch-Graffenstaden, France
    2. Laboratoire de Diagnostic Génétique
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  • C. Schmidt-Mutter,

    1. Centre d'Investigation Clinique de Strasbourg, CIC-P 1002
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  • E. Flori,

    1. Laboratoire de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
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  • V. Marion,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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  • C. Stoetzel,

    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
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  • H. Dollfus

    Corresponding author
    1. Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Universitaires de Strasbourg, Strasbourg, France
    2. Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO)
    • Corresponding author: Hélène Dollfus, Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France.

      Tel.: +33388128120;

      fax : +33388128125;

      e-mail: dollfus@unistra.fr

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  • None.

Abstract

Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet–Biedl syndrome (BBS). Clinical features and genetic results observed in a pair of dizygotic twins with BBS are reported. The following manifestations were present: retinitis pigmentosa, bilateral insertional polydactyly, cognitive impairment and renal dysfunction. X-rays of the hands confirmed the presence of a 4th mesoaxial extra-digit with Y-shaped metacarpal bones. The sequencing of LZTFL1 identified a missense mutation (NM_020347.2: p.Leu87Pro; c.260T>C) and a nonsense mutation (p.Glu260*; c.778G>T), establishing a compound heterozygous status for the twins. A major decrease of LZTFL1 transcript and protein was observed in the patient's fibroblasts. This is the second report of LZTFL1 mutations in BBS patients confirming LZTFL1 as a BBS gene. Interestingly, the only two families reported in literature thus far with LZTFL1 mutations have in common mesoaxial polydactyly, a very uncommon feature for BBS. This special subtype of polydactyly in BBS patients is easily identified on clinical examination and prompts for priority sequencing of LZTFL1 (BBS17).

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