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Molecular analysis of the NDP gene in two families with Norrie disease
M Refugio Rivera-Vega1, Silvet Chiñas-Lopez, Ana Luisa Jimenez Vaca
1Department of Genetics, General Hospital of Mexico, Faculty of Medicine, University of Mexico, Mexico City, Mexico.
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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