title: Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
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 theta=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.
authors.affiliation: Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Alswaid
authors.forename: Louise
authors.initials: L
authors.lastname: Zylberberg
authors.forename: Noura
authors.initials: N
authors.lastname: Aldohayan
authors.forename: Belinda
authors.initials: B
authors.lastname: Campos-Xavier
authors.forename: Delphine
authors.initials: D
authors.lastname: Bacq
authors.forename: Laurence
authors.initials: L
authors.lastname: Legeai-Mallet
authors.forename: Jacky
authors.initials: J
authors.lastname: Bonaventure
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome