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

Jamie O Yang, Hapet Shaybekyan,Yan Zhao,Xuedong Kang,Gregory A Fishbein,Negar Khanlou,Juan C Alejos,Nancy Halnon,Gary Satou,Reshma Biniwale,Hane Lee,Glen Van Arsdell,Stanley F Nelson,Marlin Touma

FRONTIERS IN CARDIOVASCULAR MEDICINE（2022）

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摘要

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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关键词

mitochondrial cardiomyopathy, hypertrophic cardiomyopathy, COXPD3, whole exome sequencing, mitochondrial hyperplasia, TSFM

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