title: Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
abstract: OBJECTIVE
  Mutations in the Norrie disease pseudoglioma (NDP; Xp11.3) gene have been involved in retinal blood vessel formation and neural differentiation and are implicated in familial exudative vitreoretinopathy (FEVR) cases. However, the role of the gene has not been explored in the Indian context. Thus, this study was designed to understand the involvement of NDP among Indian patients with FEVR.
  
  
  METHODS
  The study cohort comprised 225 subjects, including unrelated patients with FEVR (n = 110) and ethnically matched healthy subjects (n = 115) recruited from a tertiary eye care center in India. The entire coding regions, intron-exon boundaries, along with the 5' and 3' untranslated regions of NDP were screened with resequencing following standard protocols. The spectrum of the observed variants was analyzed in conjunction with data available from other populations.
  
  
  RESULTS
  Eight potentially pathogenic mutations (p.His4ArgfsX21, p.Asp23GlufsX9, p.Ile48ValfsX55, p.His50Asp, p.Ser57*, p.Gly113Asp, p.Arg121Gln, and p.Cys126Arg, including five novel ones), were observed in the coding region of the NDP gene in ten unrelated FEVR probands (9%). The novel changes were not observed in the control subjects and were unavailable in the dbSNP, ESP5400, NIEHS95, and ExAC databases. All probands with NDP mutations exhibited classical features of the disease as observed among patients with FEVR worldwide.
  
  
  CONCLUSIONS
  This is perhaps the first study to demonstrate the involvement of NDP among patients with Indian FEVR that further expands its mutation spectrum. The data generated could have broad implications in genetic counseling, disease management, and early intervention for a better prognosis in FEVR.
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, BHERC, L V Prasad Eye Institute, Hyderabad, India.
authors.forename: Ganeswara Rao
authors.initials: GR
authors.lastname: Musada
authors.affiliation: Smt. Kanuri Santhamma Centre for Vitreo Retinal Diseases, L V Prasad Eye Institute, Hyderabad, India.
authors.forename: Subhadra
authors.initials: S
authors.lastname: Jalali
authors.affiliation: Smt. Kanuri Santhamma Centre for Vitreo Retinal Diseases, L V Prasad Eye Institute, Hyderabad, India.
authors.forename: Anjli
authors.initials: A
authors.lastname: Hussain
authors.affiliation: Fernandez Hospital, Hyderabad, India.
authors.forename: Anupama Reddy
authors.initials: AR
authors.lastname: Chururu
authors.affiliation: Fernandez Hospital, Hyderabad, India.
authors.forename: Pramod Reddy
authors.initials: PR
authors.lastname: Gaddam
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, BHERC, L V Prasad Eye Institute, Hyderabad, India.
authors.forename: Subhabrata
authors.initials: S
authors.lastname: Chakrabarti
authors.affiliation: Kallam Anji Reddy Molecular Genetics Laboratory, Brien Holden Eye Research Centre, BHERC, L V Prasad Eye Institute, Hyderabad, India.
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Kaur
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D020121:5' Untranslated Regions / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D015785:Eye Diseases, Hereditary; D005136:Eye Proteins / Q000235:genetics*; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D006801:Humans; D007194:India / Q000453:epidemiology; D007438:Introns / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins