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TARS2 variants causes combination oxidative phosphorylation deficiency-21: a case report and literature reviewTARS2 variants causes combination oxidative phosphorylation deficiency-21
Abstract Objective: To explore the clinical characteristics and genetic characteristics of the combined oxidative phosphorylation defect type 21 (COXPD21) caused by the TARS2 compound heterozygous varians, and to improve clinicians' awareness of the disease. Methods: The clinical performance, diagnosis and treatment process and gene characteristics of COXPD21 caused by TARS2 were reviewed and analyzed and reviewed combined with the literature. Results: The proband was a girl, the first birth, with repeated refractory hypokalemia, hearing impairment, developmental delay and intellectual disability，development backwardness after infection, high limb muscle tension, and increased serum lactate as the clinical phenotype. Two heterozygous varians in the TARS2 gene were detected by whole exome sequencing, one of which was c.1679(exon14) A > C (p.Asp560Ala) missense , which was derived from the mother, and the other was c.1036(exon10)C >T (p.Arg346Cys) missense variant, derived from the father, the child was diagnosed with COXPD21. The literature collected from the CNKI, Wanfang data and biomedical literature database (PubMed) until November 2021 were searched and reviewed with the key words "mitochondrial encephalomyopathy", "TARS2" and "combined oxidative phosphorylation deficiency type 21". A total of four complete domestic and foreign cases were collected from the literature search. Conclusion: COXPD21 onset by complex heterozygous variant of TARS2 causes refractory hypokalemia, which is rarely reported at home and abroad.
Received: 18 April 2022
Accepted after revision: 13 September 2022
Accepted Manuscript online:
23 September 2022
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