Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
oleh: 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
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2022-01-01 |
Deskripsi
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.