Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy

2018 ◽  
Vol 61 (8) ◽  
pp. 434-441 ◽  
Author(s):  
Nianwei Zhou ◽  
Shengmei Qin ◽  
Yili Liu ◽  
Lu Tang ◽  
Weipeng Zhao ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Compound Heterozygous Mutations ◽  
Mybpc3 Gene

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

2017 ◽  
Vol 60 (12) ◽  
pp. 635-638 ◽  
Author(s):  
Ryojun Takeda ◽  
Masaki Takagi ◽  
Hiroyuki Shinohara ◽  
Hiroshi Futagawa ◽  
Satoshi Narumi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Japanese Patient ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Compound Heterozygous Mutations

scholarly journals Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy

2022 ◽  
Vol 8 ◽  
Author(s):  
Jamie O. Yang ◽  
Hapet Shaybekyan ◽  
Yan Zhao ◽  
Xuedong Kang ◽  
Gregory A. Fishbein ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Elongation Factor ◽  
Nuclear Gene ◽  
Compound Heterozygous ◽  
Mitochondrial Translation ◽  
Translation Elongation ◽  
Whole Exome ◽  
Compound Heterozygous Variants

We report a case of hypertrophic cardiomyopathy and lactic acidosis in a 3-year-old female. Cardiac and skeletal muscles biopsies exhibited mitochondrial hyperplasia with decreased complex IV activity. Whole exome sequencing identified compound heterozygous variants, p.Arg333Trp and p.Val119Leu, in TSFM, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.

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