title: Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.
abstract: Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness due to a degenerative and proliferative dysplasia of the neuroretina and, occasionally, by deafness and mental handicap. Here, we report two novel mutations detected in patients with the classical eye features of ND. Both the one-base pair insertion in exon II (544/545 insA) and the two-base pair deletion in the start codon (418delTG) of the ND gene predict a functional 'null allele', i.e. the complete absence of the corresponding gene product.
authors.affiliation: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Caballero
authors.forename: A
authors.initials: A
authors.lastname: Veske
authors.forename: J J
authors.initials: JJ
authors.lastname: Rodriguez
authors.forename: N
authors.initials: N
authors.lastname: Lugo
authors.forename: B
authors.initials: B
authors.lastname: Schroeder
authors.forename: L
authors.initials: L
authors.lastname: Hesse
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000483:Alleles; D001706:Biopsy; D001766:Blindness / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D018387:Codon, Initiator / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
chemical_list: D018387:Codon, Initiator