Monogenic hearing loss
Gene: MPV17
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
MPV17 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert