A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa

ConclusionThe founderAlu insertion inRP1 is an important cause of autosomal recessive RP in Japanese patients and can be missed in standard targeted resequencing. Screening optimized for this mutation is warranted, particularly in patients with a heterozygous deleterious mutation outside the defined region in exon 4 ofRP1.
Source: Japanese Journal of Ophthalmology - Category: Opthalmology Source Type: research