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A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2

Item Type:Article
Title:A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
Creators Name:Thierfelder, L.H. and MacRae, C. and Watkins, H. and Tomfohrde, J. and Williams, M. and McKenna, W. and Bohm, K. and Noeske, G. and Schlepper, M. and Bowcock, A.
Abstract:We report that a gene responsible for familial hypertrophic cardiomyopathy (FHC) in a kindred with a mild degree of cardiac hypertrophy maps to chromosome 15q2. The gene encoding cardiac actin, located on chromosome 15q, was analyzed and excluded as a candidate for FHC at this locus. Two additional families with typical FHC were studied and the disorder in one also maps to the chromosome 15q2 locus. The maximum combined multipoint logarithm of odds score in the two linked families is 6.02. Although these two kindreds reside in the same country, we believe that their disorder is caused by independent mutations in the 15q2 locus because of the clinical and genotypic differences between affected individuals. Mutations in at least four loci can cause FHC: chromosomes 14q1 (beta cardiac myosin heavy chain gene), 1q3, and 15q2 and another unidentified locus, suggesting substantial genetic heterogeneity.
Keywords:Base Sequence, Hypertrophic Cardiomyopathy, Chromosome Mapping, Human Chromosomes Pair 15, Linkage (Genetics), Molecular Sequence Data, Pedigree
Source:Proceedings of the National Academy of Sciences of the United States of America
ISSN:0027-8424
Publisher:National Academy of Sciences (U.S.A.)
Volume:90
Number:13
Page Range:6270-6274
Date:1 July 1993
Official Publication:http://www.pnas.org/content/90/13/6270.abstract
PubMed:View item in PubMed

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