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  • Title: Molecular analysis of the NDP gene in two families with Norrie disease.
    Author: Rivera-Vega MR, Chiñas-Lopez S, Vaca AL, Arenas-Sordo ML, Kofman-Alfaro S, Messina-Baas O, Cuevas-Covarrubias SA.
    Journal: Acta Ophthalmol Scand; 2005 Apr; 83(2):210-4. PubMed ID: 15799735.
    Abstract:
    PURPOSE: 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. CONCLUSION: 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.
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