Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

A combined approach of chromatic immunoprecipitation and parallel sequencing of genomic DNA was utilized to identify a gene, FAM161A which was shown to carry a homozygous nonsense mutation (p.Arg229X) in patients form the original retinitis pigmentosa 28 (RP28) pedigrees. The data obtained indicated that the RP28-associated arRP is attributed to the null mutations in FAM161A.