Journal
HUMAN MUTATION
Volume 25, Issue 1, Pages 38-44Publisher
WILEY
DOI: 10.1002/humu.20110
Keywords
FKRP; TRIM32; limb girdle muscular dystrophy; LGMD; Hutterites; linkage mapping; linkage disequilibrium; founder effect
Categories
Ask authors/readers for more resources
Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families who did not show linkage to the LGMD2H locus on chromosome 9. A second LGMD locus, LGMD21, was identified in chromosome region 19q13.3, and the causative mutation was identified as c.826C>A (L276I), a missense mutation in the FKRP gene. A comparison of the clinical characteristics of the two LGMD patient groups in this population reveals some differences. LGMD21 patients generally have an earlier age at diagnosis, a more severe course, and higher serum creatine kinase (CK) levels. In addition, some of these patients show calf hypertrophy, cardiac symptoms, and severe reactions to general anesthesia. None of these features are present among LGMD2H patients. A single common haplotype surrounding the FKRP gene was identified in the Hutterite LGMD21 patients. An identical core haplotype was also identified in 19 other non-Hutterite LGMD21 patients from Europe, Canada, and Brazil. The occurrence of this mutation on a common core haplotype suggests that L2761 is a founder mutation that is dispersed among populations of European origin. (C) 2004 Wiley-Liss, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available