Monogenic hearing loss

Gene: MPV17

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#256810:Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)[Short stature; Poor weight gain; Failure to thrive; Corneal ulcerationsNystagmus; HepatomegalyAcute hepatic failureReye syndrome-like episodesBiopsy shows multinucleated giant cellsMacrovesicular steatosisMicrovesicular steatosisPseudo-aciniInflammationCholestasisBridging fibrosisCirrhosisMitochondrial DNA depletion in liver tissue; VomitingDiarrhea; Painless fractures due to injury; Acral ulceration and osteomyelitis leading to autoamputation; Acral ulceration and osteomyelitis leading to autoamputation; Neonatal jaundice; Progressive white matter lesions in the brainHypotoniaDystoniaAtaxiaDevelopmental delay; Progressive sensorimotor neuropathyPain insensitivityHyporeflexiaAreflexiaMuscle weakness, distalDelayed motor nerve conduction velocities (NCV)Loss of large and small myelinated fibers seen on nerve biopsy; Lactic acidosisHypoglycemia; Systemic infections; Elevated liver enzymesIncreased total and conjugated bilirubin]

Publications

• PMID:11431741
• 16582910
• 16909392
• 1696177
• 18695062
• 18818194
• 20042463
• 8281143