Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
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.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jan 06, 2022
- Source ID
- 10.3389/fcvm.2021.798985
Entities
People
- Gary Satou
- Glen Van Arsdell
- Gregory A Fishbein
- Hane Lee
- Hapet Shaybekyan
- Jamie O. Yang
- Juan C. Alejos
- Marlin Touma
- Nancy Halnon
- Negar Khanlou
- Reshma Biniwale
- Stanley F. Nelson
- The Ucla Clinical Genomics Center
- The Ucla Congenital Heart Defects-biocore Faculty
- Xuedong Kang
- Yan Zhao
Organizations
- National Heart, Lung, and Blood Institute
- United States Department of Defense