biostudies-literatureUnknown12Ban R<h4>Objective</h4>The cytochrome c oxidase assembly factor 7 (<i>COA7)</i> gene encodes a protein localized to mitochondria that is involved in the assembly of mitochondrial respiratory chain complex IV. Here, we report the clinical, genetic and biochemical analysis of a female patient with suspected mitochondrial disorder and novel variants in <i>COA7</i>, that presented with a considerably different phenotype and age of onset than the five <i>COA7</i> patients reported to date.<h4>Methods</h4>We performed trio-exome sequencing in the affected patient and both parents. To verify the pathogenicity of the detected variants in <i>COA7</i>, mitochondrial enzyme activities and oxygen consumption rate were investigated in fibroblasts of the patient and her parents.<h4>Results</h4>A Chinese girlFrontiers in genetics685035https://www.ebi.ac.uk/biostudies/studies/S-EPMC8312223biostudies-literatureBiallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.PMC8312223Liu ZXu MYang LShimura MXiao JFang FTong XMurayama KProkisch HWang JElstner MBan RfalseBiallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.<h4>Objective</h4>The cytochrome c oxidase assembly factor 7 (<i>COA7)</i> gene encodes a protein localized to mitochondria that is involved in the assembly of mitochondrial respiratory chain complex IV. Here, we report the clinical, genetic and biochemical analysis of a female patient with suspected mitochondrial disorder and novel variants in <i>COA7</i>, that presented with a considerably different phenotype and age of onset than the five <i>COA7</i> patients reported to date.<h4>Methods</h4>We performed trio-exome sequencing in the affected patient and both parents. To verify the pathogenicity of the detected variants in <i>COA7</i>, mitochondrial enzyme activities and oxygen consumption rate were investigated in fibroblasts of the patient and her parents.<h4>Results</h4>A Chinese girl2021-01-01T00:00:00Z20212025-04-04T21:10:59.007Z2022-02-11T00:23:38.988ZS-EPMC83122233432215510.3389/fgene.2021.685035