Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
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.
Faivre
Laurence
L
Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.
Mégarbané
André
A
Alswaid
Abdulrahman
A
Zylberberg
Louise
L
Aldohayan
Noura
N
Campos-Xavier
Belinda
B
Bacq
Delphine
D
Legeai-Mallet
Laurence
L
Bonaventure
Jacky
J
Munnich
Arnold
A
Cormier-Daire
Valérie
V
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