title: Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
abstract: Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin protein.
authors: Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
authors: A
authors: A
authors: Gal
authors: A
authors: A
authors: Veske
authors: G
authors: G
authors: Jojart
authors: B
authors: B
authors: Grammatico
authors: B
authors: B
authors: Huber
authors: S
authors: S
authors: Gu
authors: G
authors: G
authors: del Porto
authors: K
authors: K
authors: Senyi
mesh_terms: D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics
chemical_list: D004247:DNA