Mitochondrial disorders
Gene: MIEF2
PMID:29361167 reported a single individual with biallelic MIEF2 variant (p.Gln9Ter) and with combined oxidative phosphorylation deficiency-49.
This gene has been associated with relevant phenotype in OMIM (MIM #619024), but not in Gene2Phenotype.Created: 11 Dec 2023, 3:56 p.m. | Last Modified: 11 Dec 2023, 3:56 p.m.
Panel Version: 4.117
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 49, OMIM:619024
Publications
PMID: 29361167 (2018) reported a 15-year-old boy, born of consanguineous Jewish parents, with combined oxidative phosphorylation deficiency-49 and a homozygous nonsense variant in the MIEF2 gene (Q92X). Patient skeletal muscle and fibroblasts showed a combined decrease in mitochondrial respiratory chain enzymes, particularly complexes I and IV, elongated mitochondria with abnormal cristae, decreased mitochondrial fission, and increased fusion events. The cellular phenotype could be rescued by expression of wildtype MIEF2. The findings were consistent with a defect in mitochondrial dynamics
Sources: LiteratureCreated: 4 Dec 2023, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 49
Publications
Phenotypes for gene: MIEF2 were changed from ?Combined oxidative phosphorylation deficiency 49 to ?Combined oxidative phosphorylation deficiency 49, OMIM:619024
Gene: mief2 has been classified as Red List (Low Evidence).
gene: MIEF2 was added gene: MIEF2 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIEF2 were set to 29361167 Phenotypes for gene: MIEF2 were set to ?Combined oxidative phosphorylation deficiency 49 Review for gene: MIEF2 was set to AMBER