A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21

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 h...

Full description

Saved in:

Bibliographic Details
Published in:	Brain (London, England : 1878) Vol. 129; no. 8; pp. 2077 - 2084
Main Authors:	Tétreault, M., Duquette, A., Thiffault, I., Bherer, C., Jarry, J., Loisel, L., Banwell, B., D'Anjou, G., Mathieu, J., Robitaille, Y., Vanasse, M., Brais, B.
Format:	Journal Article
Language:	English
Published:	Oxford Oxford University Press 01-08-2006 Oxford Publishing Limited (England)
Subjects:	Adolescent Adult Antibacterial agents Antibiotics. Antiinfectious agents. Antiparasitic agents Biological and medical sciences Child Chromosome Mapping - methods Chromosomes, Human, Pair 3 - genetics Collagen Type VI - deficiency Collagen Type VI - genetics congenital muscular dystrophy Diseases of striated muscles. Neuromuscular diseases family study Female Genetic Linkage Haplotypes Humans hyperlaxity Joint Instability - complications Joint Instability - genetics linkage Male Medical sciences Muscle Fibers, Skeletal - pathology Muscular Dystrophies - complications Muscular Dystrophies - congenital Muscular Dystrophies - genetics Muscular Dystrophies - pathology Mutation Neurology Pedigree Pharmacology. Drug treatments Phenotype Cartography Neuromuscular diseases Nervous system diseases Congenital Family study linkage Joint Muscular dystrophy Genetic disease Osteoarticular system hyperlaxity congenital muscular dystrophy Genetic linkage
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
Bibliography:	istex:901C0B05D53AAC4E030212BA9329C6A2AB7B0F85 Abbreviations CMDcongenital muscular dystrophy CMDHcongenital muscular dystrophy with hyperlaxity H & Ehaematoxylin and eosin LODlog of the odds PBSphosphate-buffered saline PCRpolymerase chain reaction SNPsingle nucleotide polymorphism UCMDUllrich congenital muscular dystrophy ark:/67375/HXZ-CJ68CKGZ-6 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0006-8950 1460-2156
DOI:	10.1093/brain/awl146