Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene

Yu bao Zou, Ji zheng Wang, Geru Wu, Lei Song, Shu xia Wang, Hui Yu, Qian Zhang, H. Wang, Ru tai Hui

Research output: Contribution to journalArticle

Abstract

OBJECTIVE: To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype. METHODS: One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. RESULTS: A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene. CONCLUSION: HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.

Original languageEnglish (US)
Pages (from-to)699-702
Number of pages4
JournalZhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]
Volume34
Issue number8
StatePublished - Aug 1 2006
Externally publishedYes

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Cardiac Myosins
Hypertrophic Cardiomyopathy
Mutation
Genes
Ventricular Myosins
Myosin Heavy Chains
Genetic Association Studies
myosin-binding protein C
Chest Pain
Introns
Hypertrophy
Physical Examination
Echocardiography
Exons
Electrocardiography
Thorax
Phenotype
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene. / Zou, Yu bao; Wang, Ji zheng; Wu, Geru; Song, Lei; Wang, Shu xia; Yu, Hui; Zhang, Qian; Wang, H.; Hui, Ru tai.

In: Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases], Vol. 34, No. 8, 01.08.2006, p. 699-702.

Research output: Contribution to journalArticle

Zou, Yu bao ; Wang, Ji zheng ; Wu, Geru ; Song, Lei ; Wang, Shu xia ; Yu, Hui ; Zhang, Qian ; Wang, H. ; Hui, Ru tai. / Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene. In: Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2006 ; Vol. 34, No. 8. pp. 699-702.
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abstract = "OBJECTIVE: To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype. METHODS: One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. RESULTS: A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene. CONCLUSION: HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.",
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T1 - Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene

AU - Zou, Yu bao

AU - Wang, Ji zheng

AU - Wu, Geru

AU - Song, Lei

AU - Wang, Shu xia

AU - Yu, Hui

AU - Zhang, Qian

AU - Wang, H.

AU - Hui, Ru tai

PY - 2006/8/1

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N2 - OBJECTIVE: To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype. METHODS: One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. RESULTS: A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene. CONCLUSION: HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.

AB - OBJECTIVE: To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype. METHODS: One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. RESULTS: A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene. CONCLUSION: HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.

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