Mitochondrial disease

Gene: MRPS7

I don't know

The initial report (PMID: 25556185) describes a homozygous missense variant in two sisters with sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. One sister died in early adolescence but the other survived beyond puberty and had primary ovarian insufficiency. Experimental evidence supported causation of the MRPS7 variant.

The second publication (PMID: 36421788) describes sisters with an overlapping phenotype including sensorineural deafness and premature ovarian insufficiency. They both had compound heterozygous (one missense, one nonsense) MRPS7 variants.

Created: 15 Feb 2023, 1:37 p.m. | Last Modified: 15 Feb 2023, 1:37 p.m.

Panel Version: 0.854

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sensorineural deafness; renal failure; liver failure; primary ovarian insufficiency

Publications

• PMID: 36421788
• 25556185

Red List (low evidence)

Single family reported.

Created: 3 Feb 2020, 10:50 a.m. | Last Modified: 3 Feb 2020, 10:50 a.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 34, MIM# 617872

Publications

• 25556185