title: A novel missense Norrie disease mutation associated with a severe ocular phenotype.
abstract: Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.
authors.affiliation: King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Farrukh A
authors.initials: FA
authors.lastname: Shamsi
authors.forename: Amr
authors.initials: A
authors.lastname: Al-Saif
authors.forename: Marios
authors.initials: M
authors.lastname: Kambouris
mesh_terms: D001766:Blindness / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins