Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
Dominique Hillaire(Genethon (France)), A. Leclerc(Centre National de la Recherche Scientifique), Sabine Fauré(Genethon (France)), Haluk Topaloğlu(Hacettepe University Hospital), Nuchanard Chiannllkulchaï(Genethon (France)), Pascale Guicheney(Centre National de la Recherche Scientifique), Laurent Grinas(Genethon (France)), Patricia Legos(Genethon (France)), Joanne Philpot(Hammersmith Hospital), Teresinha Evangelista(Centre National de la Recherche Scientifique), Marie-Claude Routon(Hôpital Saint-Vincent-de-Paul), M. Mayer(Hôpital Saint-Vincent-de-Paul), Jean-Francols Pellissier(Hôpital de la Timone), B. Estournet(Hôpital Raymond-Poincaré), Annie Barols(Hôpital Raymond-Poincaré), Fayçal Hentati(Institut National de Santé Publique), N Feingold(Inserm), J. Beckmann(Fondation Jean Dausset-CEPH), Victor Dubowitz(Hammersmith Hospital), F.M.S. Tomé(Centre National de la Recherche Scientifique), Michel Fardeau(Centre National de la Recherche Scientifique)
Cited by 199
Abstract
Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression. FCMD has been localized to chromosome 9q31-q33. Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; theta = 0.0 for marker AFM127xb2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene. In three consanguineous, merosin-positive, CMD families there was no linkage to either chromosome 6q2 or 9q31-q33.