Monogenic hearing loss

Gene: PET100

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

• PMID:22356826
• 24462369