A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.
Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disorder characterized mainly by left ventricular hypertrophy and myocyte disarray; it is the most common cause of sudden death in otherwise healthy individuals. More than 270 mutations in genes encoding the cardiac sarcomere have been identified. Attempts to establish a genotype-phenotype correlation for each of the mutations have not been highly successful. It has been suggested that additional genetic loci, as well as nongenetic factors such as lifestyle, gender and age, may play a role in modulating the clinical presentation of the disease. The p.R870H mutation has been identified as the cause of familial hypertrophic cardiomyopathy in an Indian family. The results indicate that the disease phenotype varied among various affected members of the family, and the variation may be attributed to factors, such as gender and gene dosage.
Bashyam
Murali D
MD
Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics (CDFD), Nacharam, India. bashyam@cdfd.org.in
Savithri
Gorinabele R
GR
Gopikrishna
Munimanda
M
Narasimhan
Calambur
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D000809:Angiotensins / Q000235:genetics*; D024722:Cardiac Myosins / Q000235:genetics*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D007194:India; D008297:Male; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D009206:Myocardium; D018995:Myosin Heavy Chains / Q000235:genetics*; D009218:Myosins / Q000235:genetics*; D010865:Pilot Projects; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012518:Sarcomeres
D000809:Angiotensins; C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains; D009218:Myosins
Circulation. 2000 Oct 17;102(16):1950-5
11034944
J Muscle Res Cell Motil. 1997 Jun;18(3):275-83
9172070
Circulation. 1995 Jun 15;91(12):2911-5
7796500
J Hum Genet. 2003;48(2):55-64
12601548