{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12"],"submitter":["Ban R"],"pubmed_abstract":["<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 girl"],"journal":["Frontiers in genetics"],"pagination":["685035"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8312223"],"repository":["biostudies-literature"],"pubmed_title":["Biallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient."],"pmcid":["PMC8312223"],"pubmed_authors":["Liu Z","Xu M","Yang L","Shimura M","Xiao J","Fang F","Tong X","Murayama K","Prokisch H","Wang J","Elstner M","Ban R"],"additional_accession":[]},"is_claimable":false,"name":"Biallelic <i>COA7</i>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient.","description":"<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 girl","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021","modification":"2025-04-04T21:10:59.007Z","creation":"2022-02-11T00:23:38.988Z"},"accession":"S-EPMC8312223","cross_references":{"pubmed":["34322155"],"doi":["10.3389/fgene.2021.685035"]}}