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

Frontiers in Cardiovascular Medicine

Jamie O. Yang¹  Marlin Touma²  Gregory A. Fishbein³  Negar Khanlou³  Hane Lee⁴  Nancy Halnon⁵  Reshma Biniwale⁵  Gary Satou⁵  Glen Van Arsdell⁵  Juan C. Alejos⁵  Stanley F. Nelson⁶  Xuedong Kang⁷  Yan Zhao⁷  Hapet Shaybekyan⁷ 

[1] David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States;Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pediatrics, David Geffen School of Medicine, Children's Discovery and Innovation Institute, University of California, Los Angeles, Los Angeles, CA, United States;The Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Eli and Edythe Broad Stem Cell Research Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States;

关键词: mitochondrial cardiomyopathy;    hypertrophic cardiomyopathy;    COXPD3;    whole exome sequencing;    mitochondrial hyperplasia;    TSFM;   

DOI  :  10.3389/fcvm.2021.798985

来源: Frontiers

【 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.

【 授权许可】

CC BY