Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
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.
Gal
A
A
Institut für Humangenetik, Universitäts-Krankenhaus Eppendorf, Hamburg, Germany.
Veske
A
A
Jojart
G
G
Grammatico
B
B
Huber
B
B
Gu
S
S
del Porto
G
G
Senyi
K
K
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
D004247:DNA