Article
A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.
American journal of medical genetics. Part A - 1 Oct 2024
Jennions E, Olsson-Engman M, Visuttijai K, Wiksell Å, Fluriach Dominguez N, Kollberg G, Oldfors A, Hedberg-Oldfors C
Abstract excerpt
Cytochrome c oxidase (COX) deficiency is a phenotypically diverse group of diseases caused by variants in over 30 genes. Biallelic pathogenic variants in COX6B1 have been described in four patients to date with varying disease manifestations. We describe the clinical features and follow-up of a patient with a novel homozygous pathogenic variant in COX6B1 who presented acutely with severe encephalomyopathy...
Topics
- Female
- Humans
- Male
- Cytochrome-c Oxidase Deficiency
- Electron Transport Complex IV
- Homozygote
- Mutation, Missense
- Phenotype
- Infant, Newborn
- Child, Preschool
- Child