Frontiers in Cardiovascular Medicine (Jan 2022)
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
- Jamie O. Yang,
- Hapet Shaybekyan,
- Hapet Shaybekyan,
- Yan Zhao,
- Yan Zhao,
- Xuedong Kang,
- Xuedong Kang,
- Gregory A. Fishbein,
- Negar Khanlou,
- Juan C. Alejos,
- Nancy Halnon,
- Gary Satou,
- Reshma Biniwale,
- Hane Lee,
- Hane Lee,
- Glen Van Arsdell,
- Stanley F. Nelson,
- Stanley F. Nelson,
- Stanley F. Nelson,
- Stanley F. Nelson,
- Marlin Touma,
- Marlin Touma,
- Marlin Touma,
- Marlin Touma,
- Marlin Touma,
- Marlin Touma,
- Marlin Touma,
- the UCLA Clinical Genomics Center,
- the UCLA Congenital Heart Defects-BioCore Faculty
Affiliations
- Jamie O. Yang
- David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Hapet Shaybekyan
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Hapet Shaybekyan
- Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States
- Yan Zhao
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Yan Zhao
- Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States
- Xuedong Kang
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Xuedong Kang
- Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States
- Gregory A. Fishbein
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Negar Khanlou
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Juan C. Alejos
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Nancy Halnon
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Gary Satou
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Reshma Biniwale
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Hane Lee
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Hane Lee
- Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Glen Van Arsdell
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Stanley F. Nelson
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Stanley F. Nelson
- Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Stanley F. Nelson
- Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Stanley F. Nelson
- Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- Neonatal/Congenital Heart Laboratory, Cardiovascular Research Laboratory, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- Department of Pediatrics, David Geffen School of Medicine, Children's Discovery and Innovation Institute, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- The Molecular Biology Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- Marlin Touma
- Eli and Edythe Broad Stem Cell Research Center, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- the UCLA Clinical Genomics Center
- David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- the UCLA Congenital Heart Defects-BioCore Faculty
- David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States
- DOI
- https://doi.org/10.3389/fcvm.2021.798985
- Journal volume & issue
-
Vol. 8
Abstract
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.
Keywords
- mitochondrial cardiomyopathy
- hypertrophic cardiomyopathy
- COXPD3
- whole exome sequencing
- mitochondrial hyperplasia
- TSFM