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.
Original language | English (US) |
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Pages (from-to) | 13-16 |
Number of pages | 4 |
Journal | Acta Ophthalmologica Scandinavica, Supplement |
Volume | 74 |
Issue number | 219 |
State | Published - 1996 |
Externally published | Yes |
Keywords
- Blindness
- Gene mutations
- Initiation codon
- Norrie syndrome
- X chromosome
ASJC Scopus subject areas
- Ophthalmology