title: Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
abstract: BACKGROUND
  To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease and retinopathy of prematurity (ROP).
  
  
  METHODS
  A dataset comprising 13 Norrie-FEVR, one Coat's disease, 31 ROP patients and 90 ex-premature babies of <32 weeks' gestation underwent an ophthalmologic examination and were screened for mutations within the NDP gene by direct DNA sequencing, denaturing high-performance liquid chromatography or gel electrophoresis. Controls were only screened using denaturing high-performance liquid chromatography and gel electrophoresis. Confirmation of mutations identified was obtained by DNA sequencing.
  
  
  RESULTS
  Evidence for two novel mutations in the NDP gene was presented: Leu103Val in one FEVR patient and His43Arg in monozygotic twin Norrie disease patients. Furthermore, a previously described 14-bp deletion located in the 5' unstranslated region of the NDP gene was detected in three cases of regressed ROP. A second heterozygotic 14-bp deletion was detected in an unaffected ex-premature girl. Only two of the 13 Norrie-FEVR index cases had the full features of Norrie disease with deafness and mental retardation.
  
  
  CONCLUSIONS
  Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non-coding region was associated with only mild-regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full-term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long-term outcome.
authors.affiliation: Menzies Research Institute, University of Tasmania, Hobart, Australia.
authors.forename: Joanne L
authors.initials: JL
authors.lastname: Dickinson
authors.forename: Michèle M
authors.initials: MM
authors.lastname: Sale
authors.forename: Abraham
authors.initials: A
authors.lastname: Passmore
authors.forename: Liesel M
authors.initials: LM
authors.lastname: FitzGerald
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Wheatley
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.forename: Supaporn
authors.initials: S
authors.lastname: Tengtrisorn
authors.forename: Susan M
authors.initials: SM
authors.lastname: Carden
authors.forename: Hector
authors.initials: H
authors.lastname: Maclean
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid; D003638:Deafness / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D012178:Retinopathy of Prematurity / Q000235:genetics*; D017422:Sequence Analysis, DNA; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins