Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

Homozygosity mapping is used to identify homozygous region on chromosome 2p15 in patients with autosomal-recessive retinitis pigmentosa (arRP). The data revealed FAM161A to play significant role in photoreceptors and loss-of-function mutations in FAM161A is the major cause of arRP accounting for ~12% of arRP families in the cohort of patients from Israel and the Palestinian territories.