Mitochondrial disease

Gene: RNASEH1

Green List (high evidence)

PMID 26094573: In 2 unrelated men and affected members of a third unrelated family with autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2. Fibroblasts derived from 1 of the patients showed decreased RNASEH1 transcripts and protein levels, as well as defects in mtDNA replication. In vitro functional expression studies showed that all the mutations resulted in decreased or absent RNASEH1 activity, consistent with a loss of function.

PMID 3125855: Reported the case of a patient with PEO and multiple mtDNA deletions, with two mutations in RNASEH1.

Created: 13 May 2022, 7:07 a.m. | Last Modified: 13 May 2022, 7:07 a.m.

Panel Version: 0.799

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479

Publications

• 26094573
• 31258551