2 NOVEL MUTATIONS IN THE NORRIE DISEASE GENE ASSOCIATED WITH THE CLASSICAL OCULAR PHENOTYPE

Norrie disease (ND) is a rare X-linked recessive disorder characterize d by congenital blindness due to a degenerative and proliferative dysp lasia of the neuroretina and, occasionally, by deafness and mental han dicap. Here, we report two novel mutations detected in patients with t he classical eye features of ND. Both the one-base pair insertion in e xon II (544/545 insA) and the two-base pair deletion in the start codo n (418delTG) of the ND gene predict a functional 'null allele', i.e. t he complete absence of the corresponding gene product.