TY - JOUR
T1 - Hypertrophic cardiomyopathy
T2 - Two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy
AU - Nanni, Luisa
AU - Pieroni, Maurizio
AU - Chimenti, Cristina
AU - Simionati, Barbara
AU - Zimbello, Rosanna
AU - Maseri, Attilio
AU - Frustaci, Andrea
AU - Lanfranchi, Gerolamo
PY - 2003/9/19
Y1 - 2003/9/19
N2 - About 10% of cases of hypertrophic cardiomyopathy (HCM) evolve into dilated cardiomyopathy (DCM) with unknown causes. We studied 11 unrelated patients (pts) with HCM who progressed to DCM (group A) and 11 who showed "typical" HCM (group B). Mutational analysis of the β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and cardiac troponin T (TNNT2) genes demonstrated eight mutations affecting MYH7 or MYBPC3 gene, five of which were new mutations. In group A-pts, the first new mutation occurred in the myosin head-rod junction and the second occurred in the light chain-binding site. The third new mutation leads to a MYBPC3 lacking titin and myosin binding sites. In group B, two pts with severe HCM carried two homozygous MYBPC3 mutations and one with moderate hypertrophy was a compound heterozygous for MYBPC3 gene. We identified five unreported mutations, potentially "malignant" defects as for the associated phenotypes, but no specific mutations of HCM/DCM.
AB - About 10% of cases of hypertrophic cardiomyopathy (HCM) evolve into dilated cardiomyopathy (DCM) with unknown causes. We studied 11 unrelated patients (pts) with HCM who progressed to DCM (group A) and 11 who showed "typical" HCM (group B). Mutational analysis of the β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and cardiac troponin T (TNNT2) genes demonstrated eight mutations affecting MYH7 or MYBPC3 gene, five of which were new mutations. In group A-pts, the first new mutation occurred in the myosin head-rod junction and the second occurred in the light chain-binding site. The third new mutation leads to a MYBPC3 lacking titin and myosin binding sites. In group B, two pts with severe HCM carried two homozygous MYBPC3 mutations and one with moderate hypertrophy was a compound heterozygous for MYBPC3 gene. We identified five unreported mutations, potentially "malignant" defects as for the associated phenotypes, but no specific mutations of HCM/DCM.
KW - Compound heterozygous
KW - Dilated cardiomyopathy
KW - Homozygous mutation
KW - Hypertrophic cardiomyopathy
KW - Mutation detection
KW - Myosin heavy chain 7
KW - Myosin-binding protein C
KW - Troponin T2
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UR - http://www.scopus.com/inward/citedby.url?scp=0041923834&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2003.08.014
DO - 10.1016/j.bbrc.2003.08.014
M3 - Article
C2 - 12951062
AN - SCOPUS:0041923834
VL - 309
SP - 391
EP - 398
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 2
ER -