Human Genetics

, Volume 103, Issue 2, pp 193–198

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region

Authors

  • Myrna Saouda
    • Department of Biochemistry, American University of Beirut, Lebanon e-mail: rslim@aub.edu.lb, Fax: +961-1-744-464
  • Ahmad Mansour
    • Department of Ophthalmology, American University of Beirut, Lebanon
  • Y. Bou Moglabey
    • Department of Biochemistry, American University of Beirut, Lebanon e-mail: rslim@aub.edu.lb, Fax: +961-1-744-464
  • E. El Zir
    • Department of Otorhinolaryngology, Hôpital Sacré Coeur, Baabda, Lebanon
  • Mirna Mustapha
    • Laboratoire de Biochimie, Université Saint Joseph, Beirut, Lebanon
  • Hassan Chaib
    • Laboratoire de Déficits Neurosensoriels, Institut Pasteur, Paris, France
  • A. Nehmé
    • Department of Otorhinolaryngology, Hôpital Sacré Coeur, Baabda, Lebanon
  • André Mégarbané
    • Laboratoire de Biochimie, Université Saint Joseph, Beirut, Lebanon
  • Jacques Loiselet
    • Laboratoire de Biochimie, Université Saint Joseph, Beirut, Lebanon
  • Christine Petit
    • Laboratoire de Déficits Neurosensoriels, Institut Pasteur, Paris, France
  • R. Slim
    • Department of Biochemistry, American University of Beirut, Lebanon e-mail: rslim@aub.edu.lb, Fax: +961-1-744-464
Original Investigation

DOI: 10.1007/s004390050806

Cite this article as:
Saouda, M., Mansour, A., Bou Moglabey, Y. et al. Hum Genet (1998) 103: 193. doi:10.1007/s004390050806

Abstract

Usher syndrome (USH) is an autosomal-recessive disease characterized by neurosensory deafness and progressive retinitis pigmentosa. So far, three clinical types of Usher syndrome have been defined, and are caused by defects at more than eight loci. We report the linkage analysis of seven Lebanese families with Usher syndrome, two with type I (USH1) and five with type II (USH2). We demonstrate that one family is linked to the USH1C locus, a rare form of USH1 only reported in the French Acadian population. Linkage analysis of the five USH2 families with recently mapped loci allowed us to reduce the USH2A candidate region to a very small interval flanked by D1S2646/D1S2629 and D1S2827. Furthermore, haplotype comparison between the different families suggests a founder effect for the USH2A mutation among the different Lebanese ethnic groups, while a genetic heterogeneity is noted for Usher syndrome type I.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998