AUTHOR=Yang Jamie O. , Shaybekyan Hapet , Zhao Yan , Kang Xuedong , Fishbein Gregory A. , Khanlou Negar , Alejos Juan C. , Halnon Nancy , Satou Gary , Biniwale Reshma , Lee Hane , Van Arsdell Glen , Nelson Stanley F. , Touma Marlin ,  the UCLA Clinical Genomics Center ,  the UCLA Congenital Heart Defects-BioCore Faculty 

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

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=8

YEAR=2022

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2021.798985

DOI=10.3389/fcvm.2021.798985

ISSN=2297-055X

ABSTRACT=<p>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 <italic>TSFM</italic>, a nuclear gene that encodes a mitochondrial translation elongation factor, resulting in impaired oxidative phosphorylation and juvenile hypertrophic cardiomyopathy.</p>