Codon 102 of the Cardiac Troponin T Gene Is a Putative Hot Spot for Mutations in Familial Hypertrophic Cardiomyopathy
1996
Background Familial
hypertrophic cardiomyopathyis a phenotypically and genetically heterogeneous disease. In some families, the disease is linked to the CMH2 locus on chromosome 1q3, in which the cardiac
troponin Tgene (
TNNT2) has been identified as the disease gene. The mutations found in this gene appear to be associated with incomplete penetrance and poor prognosis. Because mutational hot spots offer unique possibilities for analysis of genotype-phenotype correlations, new
missense mutationsthat could define such hot spots in
TNNT2were looked for in unrelated French families with familial
hypertrophic cardiomyopathy. Methods and Results Family members were genotyped with microsatellite markers to detect linkage to the four known disease loci. In family 715, analyses showed linkage to CMH2 only. To accurately position potential mutations on
TNNT2, its partial
genomic organizationwas established. Screening for mutations was performed by
single-strand conformation polymorphismanalysis and sequencing...
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