Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: AARS2
At least 6 families presenting with a severe COXPD phenotype in infancy, primarily with cardiac, muscle and neurological features in addition to lactic acidosis. Further 6 reported with a progressive neurodegenerative disorder characterised by loss of motor and cognitive skills, usually with onset in young adulthood. Some had a history of delayed motor development or learning difficulties in early childhood. Neurologic decline was severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most individuals lost speech and become wheelchair-bound or bedridden. Brain MRI showed progressive white matter signal abnormalities in the deep white matter. Affected females developed premature ovarian failure. These likely represent a spectrum of severity of a single mitochondrial disorder.Created: 29 Aug 2020, 4:55 a.m. | Last Modified: 29 Aug 2020, 4:55 a.m.
Panel Version: 0.3999
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570
Publications
Gene: aars2 has been classified as Green List (High Evidence).
Publications for gene: AARS2 were set to
gene: AARS2 was added gene: AARS2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure 615889