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

Koji Miura NishiguchiKosuke FujitaYasuhiro IkedaHiroshi KunikataYoshito KoyanagiMasato AkiyamaToshiaki AbeYuko WadaKoh-Hei SonodaToru Nakazawa

Published in: Japanese journal of ophthalmology (2020)

The founder Alu insertion in RP1 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 of RP1.

Keyphrases

early onset
genome wide
intellectual disability
copy number
cancer therapy
dna methylation
muscular dystrophy