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© 1995 Oxford University Press

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The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac {alpha} and ß myosin heavy chain genes on chromosome 14q11.2–q13

Bernard Brais, Ya-Gang Xie, Marc Sanson, Kenneth Morgan1, Jean Weissenbach2, Amos D. Korczyn3, Sergiu C. Blumen3, Michel Fardeau4, Fernando M.S. Tomé4, Jean-Pierre Bouchard5 and Guy A. Rouleau*

Centre for Research in Neurosciences, McGill University, and the Montréal General Hospital 1650 Cedar Avenue, Montréal, Québec H3G 1A4 1Departments of Epidemiology and Biostatistics, Human Genetics, McGill University 1020 Pine Avenue, Montréal, Québec H3A 1A2, Canada 2 Généthon Evry 91000, France 3Department of Neurology, Sackler School of Medicine Ramat Aviv 69978, Israel 4 INSERM U.153, 17, rue du Fer-à-Moulin, 75005 Paris, France 5Départment des sciences neurologiques, Hôpital de I'Enfant-Jésus 1401, 18e rue, Québec, Québec G1J 1Z4, Canada

*To whom correspondence should be addressed

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy which presents typically after the age of 50 with progressive eyelid drooping and an increasing difficulty in swallowing. Though OPMD has a world-wide incidence, it is more common in the French Canadian population. We have identified a homogeneous group of families and studied 166 polymorphic markers as part of a genome search before establishing linkage to chromosome 14. We determined that the OPMD locus maps to a less than 5 cM region of chromosome 14q11.2–q13. The maximum two—point lod score in three French Canadian families of 14.73 ({theta} = 0.03) was obtained for an intronic cardiac ß myosin heavy chain gene (MYH7) marker. The regional localization for the OPMD locus raises the intriguing possibility that either the cardiac {alpha} or ß myosin heavy chain genes may play a role in this disease


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