<unk>  is caused by a mutation in the BCS1L gene (position 2pq35) and is inherited in an autosomal recessive pattern. BCS1L is a protein that adds Rieske Fe/S to complex III during oxidative phosphorylation of cellular respiration. Mutations of BCS1L gene prevents the protein product from aiding in complex III formation, which reduces oxidative phosphorylation and increases the production of reactive oxygen species. Two missense mutations linked to<unk>  have been documented, but several other variants are suspected to be pathogenic. The clinical severity of different BCS1L mutations may be caused by the varying production of reactive oxygen species. The symptoms of<unk>  may be attributed to a particular sensitivity of inner ear and hair tissues to reactive oxygen species, but more research is needed. Mutations of the BCS1L gene may also result in GRACILE syndrome, which is an inherited lethal metabolic disease.
Björnstad syndrome
Swyer–James syndrome
Njølstad syndrome
Mohr–Tranebjærg syndrome
Bogart–Bacall syndrome
Sensenbrenner syndrome
SUNCT syndrome
Hoyeraal–Hreidarsson syndrome