错义突变
乳酸性酸中毒
脑病
粒线体疾病
生物
张力减退
医学
突变
遗传学
基因
线粒体DNA
内科学
作者
Sabire Gökalp,Aslı İnci,Ayşe Kılıç,Ekin Ozsaydi,A. Altun,Fevzi Demir,Filiz Ergin,Mehmet Nuri Özbek,İlyas Okur,Fatih Süheyl Ezgü,Leyla Tümer
标识
DOI:10.1515/jpem-2023-0569
摘要
Abstract Objectives The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. Case presentation The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy Conclusions We aimed to expand the clinical spectrum of pathogenic variants of TUFM.
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