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Brain Advance Access originally published online on June 7, 2006
Brain 2006 129(8):2077-2084; doi:10.1093/brain/awl146
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

M. Tétreault1, A. Duquette1, I. Thiffault1, C. Bherer1,4, J. Jarry1, L. Loisel1, B. Banwell6, G. D'Anjou2, J. Mathieu5, Y. Robitaille3, M. Vanasse2 and B. Brais1,2,5

1 Laboratoire de neurogénétique, Center for the study of brain diseases, Centre de recherche du CHUM Montreal, Québec, Canada 2 Clinique des maladies neuromusculaires, Centre de réadaptation Marie-Enfant, Hôpital Sainte-Justine Montreal, Québec, Canada 3 Département de pathologie, Hôpital Sainte-Justine Montreal, Québec, Canada 4 Démographie et épidémiologie génétique, Université du Québec à Chicoutimi Québec, Canada 5 Clinique des maladies neuromusculaires, Carrefour de Santé de Jonquière Saguenay, Québec, Canada 6 Division of Neurology, the Hospital for Sick Children Toronto, Ontario, Canada

Correspondence to: Bernard Brais, MD, MPhil, PhD, Laboratoire de neurogénétique, M4211-L3, Hôpital Notre-Dame-CHUM, 1560 Sherbrooke Est, Montreal, Quebec, Canada H2L 4M1 E-mail: Bernard.Brais{at}umontreal.ca

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.

Key Words: congenital muscular dystrophy; hyperlaxity; linkage; family study

Abbreviations: CMD, congenital muscular dystrophy; CMDH, congenital muscular dystrophy with hyperlaxity; H & E, haematoxylin and eosin; LOD, log of the odds; PBS, phosphate-buffered saline; PCR, polymerase chain reaction; SNP, single nucleotide polymorphism; UCMD, Ullrich congenital muscular dystrophy

Received January 18, 2006. Revised April 25, 2006. Accepted May 8, 2006.


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