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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2
Human Genetics, Volume 110, No. 4, Year 2002
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Description
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. © Springer-Verlag 2002.
Authors & Co-Authors
Faivre, Laurence Olivier
France, Paris
Hôpital Necker Enfants Malades
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Alswaid, Abdulrahman Faiz
Saudi Arabia, Riyadh
Riyadh Military Hospital
Zylberberg, Louise
France, Paris
Cnrs Centre National de la Recherche Scientifique
Aldohayan, Noura
Saudi Arabia, Riyadh
Riyadh Military Hospital
Campos-Xavier, Belinda A.
France, Paris
Hôpital Necker Enfants Malades
Bacq-Daian, Delphine
France, Evry
Centre National de Recherche en Génomique Humaine
Legeai-Mallet, Laurence
France, Paris
Hôpital Necker Enfants Malades
Bonaventure, Jacky
France, Paris
Hôpital Necker Enfants Malades
Münnich, Arnold
France, Paris
Hôpital Necker Enfants Malades
Cormier-Dairé, Valeŕie
France, Paris
Hôpital Necker Enfants Malades
Statistics
Citations: 40
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1007/s00439-002-0689-3
ISSN:
03406717
Research Areas
Genetics And Genomics
Health System And Policy