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A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

Balkan Journal of Medical Genetics
Volume 25 (2022): Issue 1 (June 2022)
By:
Y Peng,  J Xu,  Y Wang,  J Zhao,  L Zhang,  Z Chen,  Y Jiang,  S Banerjee,  Z Zhang and  M Bai  
Open Access
|Mar 2023

Figures & Tables

Figure 1

Pedigree of the described nonconsanguineous Chinese proband with HCM. Squares and circles denote males and females respectively. Individuals labelled with a slash were deceased. Roman numerals indicate generations. Arrow indicates the proband.
Pedigree of the described nonconsanguineous Chinese proband with HCM. Squares and circles denote males and females respectively. Individuals labelled with a slash were deceased. Roman numerals indicate generations. Arrow indicates the proband.

Figure 2

Clinical Photos. Electrocardiogram showing signs of left ventricular hypertrophy using sokolow-lyon criteria.
Clinical Photos. Electrocardiogram showing signs of left ventricular hypertrophy using sokolow-lyon criteria.

Figure 3

Transthoracic echocardiogram of hypertrophic cardiomyopathy with left ventricular outflow tract (LVOT) obstruction. (A) Diastolic short axis view. (B) M-mode parasternal long axis view demonstrating systolic anterior motion (SAM) of the mitral valve (arrow). (C) Continuous wave Doppler through the LVOT demonstrating a peak gradient of 65 mmHg.
Transthoracic echocardiogram of hypertrophic cardiomyopathy with left ventricular outflow tract (LVOT) obstruction. (A) Diastolic short axis view. (B) M-mode parasternal long axis view demonstrating systolic anterior motion (SAM) of the mitral valve (arrow). (C) Continuous wave Doppler through the LVOT demonstrating a peak gradient of 65 mmHg.

Figure 4

Cardiac magnetic resonance imaging of the index patient. (A) Diastolic short axis cine image shows the interventricular septal thickness is 37mm. (B) Short axis LGE image shows myocardial fibrosis. (C) Four-chamber cine image in diastolic. (D) Three-chamber cine image in systolic shows SAM.
Cardiac magnetic resonance imaging of the index patient. (A) Diastolic short axis cine image shows the interventricular septal thickness is 37mm. (B) Short axis LGE image shows myocardial fibrosis. (C) Four-chamber cine image in diastolic. (D) Three-chamber cine image in systolic shows SAM.

Figure 5

Partial DNA sequences in the MYBPC3 gene by Sanger sequencing of the family. The reference sequence NM_000256.3 of MYBPC3 gene was used.
Partial DNA sequences in the MYBPC3 gene by Sanger sequencing of the family. The reference sequence NM_000256.3 of MYBPC3 gene was used.

Figure 6

Relative expression of MYBPC3 mRNA.
Relative expression of MYBPC3 mRNA.
DOI: https://doi.org/10.2478/bjmg-2022-0002 | Journal eISSN: 2199-5761
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Language: English
Page range: 71 - 78
Published on: Mar 1, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
familial hypertrophic cardiomyopathy,
gene,
novel variant,
heterozygous,
.
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 Y Peng, J Xu, Y Wang, J Zhao, L Zhang, Z Chen, Y Jiang, S Banerjee, Z Zhang, M Bai, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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