Get access

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

Authors

  • O. M'hamdi,

    1. Faculté de médecine de Tunis, Université de Tunis El-Manar, Tunis, Tunisie
    Search for more papers by this author
    • These authors have equally contributed.

  • C. Redin,

    1. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964, Université de Strasbourg, Illkirch, France
    Search for more papers by this author
    • These authors have equally contributed.

  • C. Stoetzel,

    1. Faculté de Médecine, Université Louis Pasteur de Strasbourg, Laboratoire de Génétique Médicale EA3949 (Equipe AVENIR-Inserm), Strasbourg, France
    Search for more papers by this author
    • These authors have equally contributed.

  • I. Ouertani,

    1. Faculté de médecine de Tunis, Université de Tunis El-Manar, Tunis, Tunisie
    2. Hôpital Charles Nicolle de Tunis, Service des Maladies Congénitales et Héréditaires, Tunis, Tunisie
    Search for more papers by this author
  • M. Chaabouni,

    1. Faculté de médecine de Tunis, Université de Tunis El-Manar, Tunis, Tunisie
    2. Hôpital Charles Nicolle de Tunis, Service des Maladies Congénitales et Héréditaires, Tunis, Tunisie
    Search for more papers by this author
  • F. Maazoul,

    1. Hôpital Charles Nicolle de Tunis, Service des Maladies Congénitales et Héréditaires, Tunis, Tunisie
    Search for more papers by this author
  • R. M'rad,

    1. Faculté de médecine de Tunis, Université de Tunis El-Manar, Tunis, Tunisie
    2. Hôpital Charles Nicolle de Tunis, Service des Maladies Congénitales et Héréditaires, Tunis, Tunisie
    Search for more papers by this author
  • J.L. Mandel,

    1. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964, Université de Strasbourg, Illkirch, France
    2. Hôpitaux universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France
    3. Chaire de Génétique Humaine, Collège de France, Illkirch, France
    Search for more papers by this author
  • H. Dollfus,

    1. Faculté de Médecine, Université Louis Pasteur de Strasbourg, Laboratoire de Génétique Médicale EA3949 (Equipe AVENIR-Inserm), Strasbourg, France
    2. Hôpitaux Universitaires de Strasbourg, Service de Génétique Médicale/Centre de Référence pour les Affections Génétiques Ophtalmologiques, Strasbourg, France
    Search for more papers by this author
  • J. Muller,

    1. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104, INSERM U964, Université de Strasbourg, Illkirch, France
    2. Hôpitaux universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France
    Search for more papers by this author
  • H. Chaabouni

    Corresponding author
    1. Faculté de médecine de Tunis, Université de Tunis El-Manar, Tunis, Tunisie
    2. Hôpital Charles Nicolle de Tunis, Service des Maladies Congénitales et Héréditaires, Tunis, Tunisie
    • Corresponding author: Prof Habiba Chaabouni, Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis 17 rue Djebel Lakhdar 1007 Tunis, Tunisia.

      Tel.: +216 71 563 709/+216 71 570 756;

      fax: +216 71 570 553;

      e-mail: Habiba.chaabouni@rns.tn

    Search for more papers by this author

  • The authors have reported no conflicts of interest.

Abstract

Bardet–Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study is to provide a comprehensive clinical and molecular analysis of a cohort of 11 Tunisian BBS consanguineous families in order to give insight into clinical and genetic spectrum and the genotype–phenotype correlations. Molecular analysis using combined sequence capture and high-throughput sequencing of 30 ciliopathies genes revealed 11 mutations in 11 studied families. Five mutations were novel and six were previously described. Novel mutations included c.1110G>A and c.39delA (p.G13fs*41) in BBS1, c.115+5G>A in BBS2, c.1272+1G>A in BBS6, c.1181_1182insGCATTTATACC in BBS10 (p.S396Lfs*6). Described mutations included c.436C>T (p.R146*) and c.1473+4A>G in BBS1, c.565C> (p.R189*) in BBS2, deletion of exons 4–6 in BBS4, c.149T>G (p.L50R) in BBS5, and c.459+1G>A in BBS8; most frequent mutations were described in BBS1 (4/11, 37%) and BBS2 (2/11, 18%) genes. No phenotype–genotype correlation was evidenced. This data expands the mutations profile of BBS genes in Tunisia and suggests a divergence of the genetic spectrum comparing Tunisian and other populations.

Get access to the full text of this article

Ancillary