A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy
| Autor: | Yasuo Suzuki, Shunji Hasegawa, Takuro Arimura, Hiroko Narumi, Seigo Okada, Akinori Kimura |
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| Rok vydání: | 2014 |
| Předmět: |
Male
DNA Mutational Analysis Mutation Missense macromolecular substances Biology medicine.disease_cause Sudden death Myosin Genetics medicine Humans Interventricular septum Child Genetic Association Studies Mutation Base Sequence Myosin Heavy Chains Point mutation Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic medicine.disease Molecular biology medicine.anatomical_structure Ventricle cardiovascular system MYH7 Cardiac Myosins |
| Zdroj: | Journal of Genetics. 93:557-560 |
| ISSN: | 0973-7731 0022-1333 |
| Popis: | Hypertrophic cardiomyopathy (HCM) is characterized by thickening of left ventricle (LV), especially the interventricular septum (IVS), and diastolic ventricular failure (Maron 2002). It is one of the most important diseases causing a sudden death in young individuals (Maron 2002). Approximately 50% of the patients have a family history of HCM, and exhibit an autosomal dominant (AD) pattern of inheritance (Maron et al. 2012). Most of the causative genes for familial HCM encode contractile proteins such as β-cardiac myosin heavy chain, cardiac myosin-binding protein-C, and cardiac troponin T (Kimura 2010; Maron et al. 2012; Otsuka et al. 2012). Moreover, various mutations of HCMcausing genes exhibit a variety of phenotypes and prognoses (Towbin 2000; Franz et al. 2001; Towbin and Bowles 2002; Ho and Seidman 2006; Kimura 2010; Otsuka et al. 2012). The gene for β-cardiac myosin heavy chain, MYH7, is an important causative gene for HCM. In recent studies, ∼20% of HCM patients have been shown to carry a mutation in MYH7 (Richard et al. 2003; Van Driest et al. 2004, 2005; Kimura 2010; Otsuka et al. 2012), and several types of MYH7 mutations have been reported (Kubo et al. 2011). In the present report, we describe a case of a 12-year-old boy with HCMwho is a carrier of a novel de novo point mutation in MYH7 (p.Ala820Asp). Functional analysis of this mutation indicated that it may eventually lead to impairment of protein function, and therefore, we are carefully following up this patient. |
| Databáze: | OpenAIRE |
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