Human Genetics

, Volume 110, Issue 4, pp 366–370

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

Authors

  • Laurence Faivre
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
  • André Mégarbané
    • Unité de Génétique Médicale, Université Saint Joseph, Beirut
  • Abdulrahman Alswaid
    • Clinical Genetics, Riyadh Armed Forces Hospital, Riyadh
  • Louise Zylberberg
    • CNRS UMR 8570, Université Denis Diderot, Paris
  • Noura Aldohayan
    • Department of Ophthalmology, Riyadh Armed Forces Hospital, Riyadh
  • Ana Campos-Xavier
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
  • Delphine Bacq
    • Centre National de Génotypage, Evry
  • Laurence Legeai-Mallet
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
  • Jacky Bonaventure
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
  • Arnold Munnich
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
  • Valérie Cormier-Daire
    • Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris
Original Investigation

DOI: 10.1007/s00439-002-0689-3

Cite this article as:
Faivre, L., Mégarbané, A., Alswaid, A. et al. Hum Genet (2002) 110: 366. doi:10.1007/s00439-002-0689-3

Abstract.

Weill-Marchesani syndrome (WMS) is a rare disease characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities, including microspherophakia, ectopia lentis, and glaucoma. Both autosomal recessive and autosomal dominant modes of inheritance have been described in association with WMS. We have performed a genome-wide search in two large consanguineous families of Lebanese and Saudian origin consistent with an autosomal recessive mode of inheritance. Here, we report the linkage of the disease gene to chromosome 19p13.3-p13.2 (Zmax=5.99 at θ=0 at locus D19S906). A recombination event between loci D19S905 and D19S901 defines the distal boundary, and a second recombination event between loci D19S221 and D19S840 defines the proximal boundary of the genetic interval encompassing the WMS gene (12.4 cM). We hope that our ongoing studies will lead to the identification of the disease-causing gene.

Copyright information

© Springer-Verlag 2002