title: Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family.
abstract: We report an inbred family where 3 siblings had short stature, brachydactyly, limitation of joint movements, microspherophakia, luxated lenses, glaucoma, and heart malformations. Parents of the affected siblings were relatively short, but did not have any of the other features present in their siblings. Those clinical features are consistent with the Weill Marchesani syndrome (MIM 277600). Both autosomal-recessive and autosomal-dominant pedigrees have been reported, with a possible linkage to chromosome 15q21.1 in the latter. Linkage analysis at 15q21.1 in this Lebanese family allowed us to exclude the role of this region in the etiology of the syndrome. Speculations regarding the pathogenesis of the disorder are discussed.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lb
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: M
authors.initials: M
authors.lastname: Mustapha
authors.forename: J
authors.initials: J
authors.lastname: Bleik
authors.forename: N
authors.initials: N
authors.lastname: Waked
authors.forename: V
authors.initials: V
authors.lastname: Delague
authors.forename: J
authors.initials: J
authors.lastname: Loiselet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002884:Chromosomes, Human, Pair 15; D003241:Consanguinity; D004392:Dwarfism; D005128:Eye Diseases / Q000151:congenital; D005260:Female; D000071837:Fibrillins; D005808:Genes, Recessive; D008040:Genetic Linkage; D006330:Heart Defects, Congenital; D006801:Humans; D007592:Joint Diseases; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics; D009216:Myopia; D010375:Pedigree; D013577:Syndrome
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins