Mitochondrial disorders
Gene: MRPS28
PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with biallelic MRPS28 variants.Created: 11 Dec 2023, 6:30 p.m. | Last Modified: 11 Dec 2023, 6:33 p.m.
Panel Version: 4.121
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 47, OMIM:618958
Publications
PMID: 30566640 (2019) reported a 30-year-old man with a multisystemic mitochondrial disorder and compound heterozygous variants in the MRPS28 gene. Patient fibroblasts showed decreased MRPS28 protein levels compared to controls. There were variable deficiencies of complexes I, III, IV, and V activities and complex assembly associated with decreased mitochondrial respiration activity in vitro. Additional studies of patient fibroblasts showed impaired assembly of the small mitoribosomal subunit (bS1m, encoded by MRPS28), decreased levels of 12S rRNA, and impaired mitochondrial translation. These defects could be rescued by expression of wildtype MRPS28
Sources: LiteratureCreated: 4 Dec 2023, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 47
Publications
Gene: mrps28 has been classified as Red List (Low Evidence).
Phenotypes for gene: MRPS28 were changed from ?Combined oxidative phosphorylation deficiency 47 to ?Combined oxidative phosphorylation deficiency 47, OMIM:618958
gene: MRPS28 was added gene: MRPS28 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS28 were set to 30566640 Phenotypes for gene: MRPS28 were set to ?Combined oxidative phosphorylation deficiency 47 Review for gene: MRPS28 was set to AMBER