A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes

Summary: LHON has long been considered a maternally inherited disorder, but this study identifies biallelic mutations in the nuclear encoded gene DNAJC30 in unsolved patients, shedding light on an autosomal recessive mode of inheritance for the disease. The mutations in DNAJC30 result in reduced turnover of specific complex I subunits, causing impairment in complex I function.