桑格测序
外显子组测序
乳酸性酸中毒
先证者
突变
高乳酸血症
生物
生物信息学
遗传学
医学
病理
内科学
基因
内分泌学
作者
Chaofan Zhou,Jin Wang,Qinle Zhang,Qi Yang,Shang Yi,Yiping Shen,Jingsi Luo,Zailong Qin
标识
DOI:10.1016/j.cca.2021.12.025
摘要
The mitochondrial translation optimization factor 1(MTO1) gene mutations had been reported to be linked to combined oxidative phosphorylation defificiency-10 (COXPD10). In this study, we presented the detailed clinical features and genetic analysis of the patient with two variants in MTO1, and reviewed 42 different cases available in publications. Whole exome sequencing and bioinformatics analysis were employed to detect the genetic variants of a 6-month-old boy with metabolic disorder and multiple organ failure; Sanger sequencing was performed to confirm the origin of variants; and clinical data of the patients was retrospectively collected and analyzed. Variant classification was followed to ACMG guidline. The proband was diagnosed with multiple organ failure, severe pneumonia, sepsis, hyperlactatemia, metabolic acidosis, and moderate anemia. Compound heterozygous mutations in the coding region of MTO1 gene (c.1291C > T/p.Arg431Trp and c.1390C > T/p.Arg464Cys) were identified, and the results of family verification experiment showed that the mutations were inherited from the parents, respectively. Combined with clinical symptoms, the patient was diagnosed as COXPD10. In summary, hallmark features of MTO1 mutations were lactic acidosis and hypertrophic cardiomyopathy. Of note, patients with the same genetic mutation may not have the same clinical presentation. Additional MTO1 defificiency cases will help to make genotype-phenotype correlations clearer.
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