Monogenic hearing loss
Gene: APOPT1Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8Created: 7 May 2019, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#220110:Mitochondrial complex IV deficiency[Failure to thrive; Hearing loss, sensorineural; Optic atrophyPigmentary retinopathyPtosis; Hypertrophic cardiomyopathy; Respiratory difficultiesRespiratory failure due to muscle weaknessExertional dyspnea; Liver dysfunctionHepatomegalyLiver biopsy shows increased lipid droplets and abnormal mitochondria; ' De Toni-Fanconi-Debre' syndromeRenal tubular dysfunctionBiopsy shows decreased cytochrome c oxidase; Muscle weaknessHypotoniaExercise intoleranceMuscle biopsy shows decrease or absence of cytochrome c oxidaseIncreased lipid droplets and abnormal mitochondria; Developmental delayDelayed motor developmentHypotoniaAtaxiaPyramidal syndromeSeizuresMental retardationIncreased CSF lactateSymmetric lesions in the basal ganglia consistent with Leigh syndrome (), in a subset of patients; Lactic acidosis; Anemia (associated with mutation in the COX10 gene); Increased serum lactateIncreased CSF lactateProteinuriaGlucosuriaAminoaciduriaHyperphosphaturiaDecreased activity of cytochrome c oxidase in muscle and fibroblasts]
Publications
Publications for gene: APOPT1 were set to
Mode of inheritance for gene: APOPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were changed from Mitochondrial Complex IV Deficiency, 220110 to Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061
Tag new-gene-name tag was added to gene: APOPT1.
APOPT1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen