TY - JOUR
T1 - Molecular analysis of the NDP gene in two families with Norrie disease
AU - Rivera-Vega, M. Refugio
AU - Chiñas-Lopez, Silvet
AU - Jimenez Vaca, Ana Luisa
AU - Arenas-Sordo, M. Luz
AU - Kofman-Alfaro, Susana
AU - Messina-Baas, Olga
AU - Cuevas-Covarrubias, Sergio Alberto
PY - 2005/4
Y1 - 2005/4
N2 - 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.
AB - 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.
KW - GeneScan
KW - ND protein
KW - NDP gene
KW - Norrie disease
UR - http://www.scopus.com/inward/record.url?scp=17644415353&partnerID=8YFLogxK
U2 - 10.1111/j.1600-0420.2005.00398.x
DO - 10.1111/j.1600-0420.2005.00398.x
M3 - Artículo
C2 - 15799735
SN - 1395-3907
VL - 83
SP - 210
EP - 214
JO - Acta Ophthalmologica Scandinavica
JF - Acta Ophthalmologica Scandinavica
IS - 2
ER -