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

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...

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Autores principales: Yang, Jamie O., Shaybekyan, Hapet, Zhao, Yan, Kang, Xuedong, Fishbein, Gregory A., Khanlou, Negar, Alejos, Juan C., Halnon, Nancy, Satou, Gary, Biniwale, Reshma, Lee, Hane, Van Arsdell, Glen, Nelson, Stanley F., Touma, Marlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770926/
https://www.ncbi.nlm.nih.gov/pubmed/35071363
http://dx.doi.org/10.3389/fcvm.2021.798985
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author Yang, Jamie O.
Shaybekyan, Hapet
Zhao, Yan
Kang, Xuedong
Fishbein, Gregory A.
Khanlou, Negar
Alejos, Juan C.
Halnon, Nancy
Satou, Gary
Biniwale, Reshma
Lee, Hane
Van Arsdell, Glen
Nelson, Stanley F.
Touma, Marlin
author_facet Yang, Jamie O.
Shaybekyan, Hapet
Zhao, Yan
Kang, Xuedong
Fishbein, Gregory A.
Khanlou, Negar
Alejos, Juan C.
Halnon, Nancy
Satou, Gary
Biniwale, Reshma
Lee, Hane
Van Arsdell, Glen
Nelson, Stanley F.
Touma, Marlin
author_sort Yang, Jamie O.
collection PubMed
description 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.
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spelling pubmed-87709262022-01-21 Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy Yang, Jamie O. Shaybekyan, Hapet Zhao, Yan Kang, Xuedong Fishbein, Gregory A. Khanlou, Negar Alejos, Juan C. Halnon, Nancy Satou, Gary Biniwale, Reshma Lee, Hane Van Arsdell, Glen Nelson, Stanley F. Touma, Marlin Front Cardiovasc Med Cardiovascular Medicine 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. Frontiers Media S.A. 2022-01-06 /pmc/articles/PMC8770926/ /pubmed/35071363 http://dx.doi.org/10.3389/fcvm.2021.798985 Text en Copyright © 2022 Yang, Shaybekyan, Zhao, Kang, Fishbein, Khanlou, Alejos, Halnon, Satou, Biniwale, Lee, Van Arsdell, Nelson, Touma, the UCLA Clinical Genomics Center and the UCLA Congenital Heart Defects-BioCore Faculty. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Yang, Jamie O.
Shaybekyan, Hapet
Zhao, Yan
Kang, Xuedong
Fishbein, Gregory A.
Khanlou, Negar
Alejos, Juan C.
Halnon, Nancy
Satou, Gary
Biniwale, Reshma
Lee, Hane
Van Arsdell, Glen
Nelson, Stanley F.
Touma, Marlin
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title_full Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title_fullStr Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title_full_unstemmed Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title_short Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
title_sort case report: whole exome sequencing identifies compound heterozygous variants in tsfm gene causing juvenile hypertrophic cardiomyopathy
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8770926/
https://www.ncbi.nlm.nih.gov/pubmed/35071363
http://dx.doi.org/10.3389/fcvm.2021.798985
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