Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

被引：65
作者：
Nanni, L
Pieroni, M
Chimenti, C
Simionati, B
Zimbello, R
Maseri, A
Frustaci, A
Lanfranchi, G [1 ]
机构：
[1] Univ Padua, CRIBI Biotechnol Ctr, Padua, Italy
[2] Univ Cattolica Sacro Cuore, Dept Cardiol, Rome, Italy
[3] Univ Vita Salute San Raffaele, Cardiothorac & Vasc Dept, Milan, Italy
[4] Univ Vita Salute San Raffaele, Ctr Postgenom Cardiovasc Res, Milan, Italy
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2003年 / 309卷 / 02期
关键词：
hypertrophic cardiomyopathy; dilated cardiomyopathy; mutation detection; myosin heavy chain 7; myosin-binding protein C; troponin T2; homozygous mutation; compound heterozygous;
D O I：
10.1016/j.bbrc.2003.08.014
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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 beta-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 pis 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. (C) 2003 Elsevier Inc. All rights reserved.
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页码：391 / 398
页数：8
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