Norrie-Warburg syndrome: Two novel mutations in patients with classical clinical phenotype

A. Gal, A. Veske, G. Jojart, B. Grammatico, B. Huber, S. Gu, G. Del Porto, K. Senyi

Research output: Contribution to journalArticle

4 Scopus citations

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 languageEnglish (US)
Pages (from-to)13-16
Number of pages4
JournalActa Ophthalmologica Scandinavica, Supplement
Volume74
Issue number219
StatePublished - Jan 1 1996
Externally publishedYes

Keywords

  • Blindness
  • Gene mutations
  • Initiation codon
  • Norrie syndrome
  • X chromosome

ASJC Scopus subject areas

  • Ophthalmology

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