title: Molecular analysis of the NDP gene in two families with Norrie disease.
abstract: OBJECTIVE
  To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND).
  
  
  METHODS
  We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan.
  
  
  RESULTS
  Two molecular defects found in the NDP gene were: a missense mutation (265C > G) within codon 97 that resulted in the interchange of arginine by proline, and a partial deletion in the untranslated 3' region of exon 3 of the NDP gene. Clinical findings were more severe in the family that presented the partial deletion. We also diagnosed the carrier status of one daughter through GeneScan; this method proved to be a useful tool for establishing female carriers of ND.
  
  
  CONCLUSIONS
  Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.
authors.affiliation: Department of Genetics, General Hospital of Mexico, Faculty of Medicine, University of Mexico, Mexico City, Mexico.
authors.forename: M Refugio
authors.initials: MR
authors.lastname: Rivera-Vega
authors.forename: Silvet
authors.initials: S
authors.lastname: Chiñas-Lopez
authors.forename: Ana Luisa Jimenez
authors.initials: AL
authors.lastname: Vaca
authors.forename: M Luz
authors.initials: ML
authors.lastname: Arenas-Sordo
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: Olga
authors.initials: O
authors.lastname: Messina-Baas
authors.forename: Sergio Alberto
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D001766:Blindness / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D008967:Molecular Biology; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012160:Retina / Q000002:abnormalities; D017384:Sequence Deletion
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins