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PMID: 9634523 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

American journal of human genetics ·Vol. 63 ·No. 1 ·1998-07-00 ·Pages 140-7

Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K

Abstract

Characterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of clinical disorders. Previous reports have documented either autosomal dominant or autosomal recessive modes of inheritance, with genetic linkage studies providing evidence for the existence of at least 12 distinct loci. Gene products have been identified for five genes responsible for autosomal recessive forms of the disorder. We performed a genome scan using pooled DNA from a large Hutterite kindred in which the affected members display a mild form of autosomal recessive LGMD. A total of 200 markers were used to screen pools of DNA from patients and their siblings. Linkage between the LGMD locus and D9S302 (maximum LOD score 5.99 at recombination fraction .03) was established. Since this marker resides within the chromosomal region known to harbor the gene causing Fukuyama congenital muscular dystrophy (FCMD), we expanded our investigations, to include additional markers in chromosome region 9q31-q34.1. Haplotype analysis revealed five recombinations that place the LGMD locus distal to the FCMD locus. The LGMD locus maps close to D9S934 (maximum multipoint LOD score 7.61) in a region that is estimated to be approximately 4.4 Mb (Genetic Location Database composite map). On the basis of an inferred ancestral recombination, the gene may lie in a 300-kb region between D9S302 and D9S934. Our results provide compelling evidence that yet another gene is involved in LGMD; we suggest that it be named "LGMD2H."

MeSH Terms
Chromosome Mapping Chromosomes, Human, Pair 9/genetics Genes, Recessive Genetic Linkage/genetics Genetic Markers/genetics Genotype Haplotypes Humans Lod Score Manitoba Muscles/pathology Muscular Dystrophies/genetics Pedigree
Chemicals
Genetic Markers
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Weiler T
Department of Biochemistry, University of Manitoba, Winnipeg, Manitoba, Canada R3E 0W3.
Greenberg C R
Zelinski T
Nylen E
Coghlan G
Crumley M J
Fujiwara T M
Morgan K
Wrogemann K
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/301925
Published
1998-07-00
Pages
140-7
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377246
Subset
IM
External Links
PubMed source DOI: 10.1086/301925 PMC Full Text View journal details
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