title: Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
abstract: OBJECTIVE
  To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes.
  
  
  METHODS
  Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation.
  
  
  RESULTS
  NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR.
  
  
  CONCLUSIONS
  NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.
authors.affiliation: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
authors.forename: Huiqin
authors.initials: H
authors.lastname: Yang
authors.forename: Shiqiang
authors.initials: S
authors.lastname: Li
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Xiangming
authors.initials: X
authors.lastname: Guo
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D017931:DNA Primers / Q000737:chemistry; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000235:genetics*; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
chemical_list: D017931:DNA Primers; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins