COQ6 mutation in patients with nephrotic syndrome sensorineural deafness and optic atrophy

摘要

Primary coenzyme Q10 (CoQ10) deficiencies are a group of mitochondrial disorders that has proven responsiveness to replacement therapy. Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these deficits. The clinical presentation of this rare autosomal recessive disorder is heterogeneous and depends on the gene involved. Mutations in the , and genes are responsible for steroid‐resistant nephrotic syndrome (SRNS), which is associated with extra‐renal symptoms. Previous studies have reported mutations in 11 patients from five different families presenting with SRNS and sensorineural deafness.