Missense Mutation R121W in the Norrie Disease Gene in Kuwaiti Bedouin Family

Herein, we describe the molecular defects in the Norrie disease (NO) gene in a Kuwaiti Bedouin family with three affected sibs. Norrie disease is a rare X-linked recessive disorder, characterized by congenital blindness, malformed retina, psychomotor delay and deafness in a proportion of patients . We analyzed the genomic ONA through polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) approach . We have found the presence of R121W mutation within exon 3. We have identified a single base pair substitution (C T) mutation of NO gene.