title: A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.
abstract: Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint hyperlaxity. We recruited 14 French-Canadian cases belonging to 11 families affected by a novel autosomal recessive congenital muscular dystrophy with hyperlaxity (CMDH). All cases come from the southwestern part of Quebec, suggesting a new French-Canadian founder effect. All patients present muscle weakness, proximal contractures coexisting with distal joint hyperlaxity. Pathological and genetic studies have excluded that mutations in the three genes coding for collagen VI subunits are responsible for this disease. A genome-wide scan established linkage of two CMDH families to a region on chromosome 3p23-21. Further linkage analysis confirmed that all families are linked to the same region (log of the odds score of 5.3). Haplotype analysis defines a 1.6-cM candidate interval and suggests that two common mutations may account for 78% of carrier chromosomes. This study describes and maps a new form of recessive CMD with joint hyperlaxity distinct from Ullrich and Bethlem myopathies with a founder effect in the French-Canadian population.
authors.affiliation: Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM Montreal, Québec, Canada.
authors.forename: M
authors.initials: M
authors.lastname: Tétreault
authors.forename: A
authors.initials: A
authors.lastname: Duquette
authors.forename: I
authors.initials: I
authors.lastname: Thiffault
authors.forename: C
authors.initials: C
authors.lastname: Bherer
authors.forename: J
authors.initials: J
authors.lastname: Jarry
authors.forename: L
authors.initials: L
authors.lastname: Loisel
authors.forename: B
authors.initials: B
authors.lastname: Banwell
authors.forename: G
authors.initials: G
authors.lastname: D'Anjou
authors.forename: J
authors.initials: J
authors.lastname: Mathieu
authors.forename: Y
authors.initials: Y
authors.lastname: Robitaille
authors.forename: M
authors.initials: M
authors.lastname: Vanasse
authors.forename: B
authors.initials: B
authors.lastname: Brais
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002874:Chromosome Mapping / Q000379:methods; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D024142:Collagen Type VI / Q000172:deficiency / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007593:Joint Instability / Q000150:complications / Q000235:genetics*; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D024142:Collagen Type VI