期刊论文详细信息
Frontiers in Cardiovascular Medicine | |
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy | |
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
【 预 览 】
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