Open AccessMolecular analysis of the NDP gene in two families with Norrie disease
Author(s) -
RiveraVega M Refugio,
ChiñasLopez Silvet,
Vaca Ana Luisa Jimenez,
ArenasSordo M Luz,
KofmanAlfaro Susana,
MessinaBaas Olga,
CuevasCovarrubias Sergio Alberto
Publication year - 2005
Publication title -
acta ophthalmologica scandinavica
Language(s) - English
Resource type - Journals
eISSN - 1600-0420
pISSN - 1395-3907
DOI - 10.1111/j.1600-0420.2005.00398.x
Subject(s) - missense mutation , exon , gene , genetics , polymerase chain reaction , allele , mutation , biology , microbiology and biotechnology , medicine
. 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.