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Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficienc...

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Autores principales: Wei, Cui-Jie, Liu, Yi-Dan, Yang, Yan-Ling, Wu, Yuan, Liu, Jie-Yu, Chang, Xing-Zhi, Hua, Ying, Liu, Yu-He, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196124/
https://www.ncbi.nlm.nih.gov/pubmed/37215601
http://dx.doi.org/10.3389/fped.2023.1160107
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author Wei, Cui-Jie
Liu, Yi-Dan
Yang, Yan-Ling
Wu, Yuan
Liu, Jie-Yu
Chang, Xing-Zhi
Hua, Ying
Liu, Yu-He
Xiong, Hui
author_facet Wei, Cui-Jie
Liu, Yi-Dan
Yang, Yan-Ling
Wu, Yuan
Liu, Jie-Yu
Chang, Xing-Zhi
Hua, Ying
Liu, Yu-He
Xiong, Hui
author_sort Wei, Cui-Jie
collection PubMed
description The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in TRNT1-related disorders. Here we report a Chinese patient with incomplete SIFD and hyperCKemia, and explored the skeletal muscle pathological changes. The patient was a 3-year-old boy with sensorineural hearing loss, sideroblastic anemia, and developmental delay since infancy. At the age of 11 months, significantly increased levels of creatine kinase were noted, accompanied by mild muscle weakness. Whole-exome sequencing revealed compound heterozygous variants of the TRNT1 gene, c.443C > T (p.Ala148Val) and c.692C > G (p.Ala231Gly), in the patient. Western blot showed a decreased expression of TRNT1 and cytochrome c oxidase subunit IV (COX IV) in the skeletal muscle of the patient. Electron microscopy observation of skeletal muscle pathology revealed abnormal mitochondria of various sizes and shapes, supporting a diagnosis of mitochondrial myopathy. The present case indicates that in addition to the classic SIFD phenotype, TRNT1 mutations can cause mitochondrial myopathy, a rare clinical phenotype of TRNT1-related disorders.
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spelling pubmed-101961242023-05-20 Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder Wei, Cui-Jie Liu, Yi-Dan Yang, Yan-Ling Wu, Yuan Liu, Jie-Yu Chang, Xing-Zhi Hua, Ying Liu, Yu-He Xiong, Hui Front Pediatr Pediatrics The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in TRNT1-related disorders. Here we report a Chinese patient with incomplete SIFD and hyperCKemia, and explored the skeletal muscle pathological changes. The patient was a 3-year-old boy with sensorineural hearing loss, sideroblastic anemia, and developmental delay since infancy. At the age of 11 months, significantly increased levels of creatine kinase were noted, accompanied by mild muscle weakness. Whole-exome sequencing revealed compound heterozygous variants of the TRNT1 gene, c.443C > T (p.Ala148Val) and c.692C > G (p.Ala231Gly), in the patient. Western blot showed a decreased expression of TRNT1 and cytochrome c oxidase subunit IV (COX IV) in the skeletal muscle of the patient. Electron microscopy observation of skeletal muscle pathology revealed abnormal mitochondria of various sizes and shapes, supporting a diagnosis of mitochondrial myopathy. The present case indicates that in addition to the classic SIFD phenotype, TRNT1 mutations can cause mitochondrial myopathy, a rare clinical phenotype of TRNT1-related disorders. Frontiers Media S.A. 2023-05-05 /pmc/articles/PMC10196124/ /pubmed/37215601 http://dx.doi.org/10.3389/fped.2023.1160107 Text en © 2023 Wei, Liu, Yang, Wu, Liu, Chang, Hua, Liu and Xiong. 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) (https://creativecommons.org/licenses/by/4.0/) . 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 Pediatrics
Wei, Cui-Jie
Liu, Yi-Dan
Yang, Yan-Ling
Wu, Yuan
Liu, Jie-Yu
Chang, Xing-Zhi
Hua, Ying
Liu, Yu-He
Xiong, Hui
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title_full Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title_fullStr Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title_full_unstemmed Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title_short Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
title_sort case report: muscle involvement in a chinese patient with trnt1-related disorder
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196124/
https://www.ncbi.nlm.nih.gov/pubmed/37215601
http://dx.doi.org/10.3389/fped.2023.1160107
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