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- Title
Phenotypic Variation of Familial Hypertrophic Cardiomyopathy Caused by the Phe[sup 110] →Ile Mutation in Cardiac Troponin T.
- Authors
Tong-Lang Lin, Boris; Ichihara, Sahoko; Yamada, Yoshiji; Nagasaka, Tetsuo; Ishihara, Hitoshi; Nakashima, Nobuo; Yokota, Mitsuhiro
- Abstract
Mutation of the cardiac troponin T (cTnT) gene is a genetic determinant of familial hypertrophic cardiomyopathy (HCM). A Japanese family of 14 individuals, including 6 with HCM, was subjected to genetic and clinical assessment. Five exons of the cTnT gene were sequenced in all family members. A heterozygous or homozygous T[sup 340] →A (Phe[sup 110] →Ile) mutation in exon 9 of the cTnT gene was detected in 11 subjects. Morphological and functional evaluation of the left and right ventricles by echocardiography revealed that 4 of 9 individuals heterozygous for the mutant allele exhibited HCM with moderate cardiac hypertrophy. Cardiac hypertrophy and other clinical features in the 2 subjects homozygous for the mutation were more severe than were those in heterozygous individuals with HCM. Thus, the clinical features of HCM due to the Phe[sup 110] →Ile mutation in the cTnT gene appear to be modified by a gene dosage effect.Copyright © 2000 S. Karger AG, Basel
- Subjects
GENETIC mutation; EPITOPES; CARDIOMYOPATHIES; CARDIAC hypertrophy; ZYGOTES; HEART disease genetics
- Publication
Cardiology, 2000, Vol 93, Issue 3, p155
- ISSN
0008-6312
- Publication type
Article
- DOI
10.1159/000007020