Molecular analysis of the NDP gene in two families with Norrie disease.
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.
Rivera-Vega
M Refugio
MR
Department of Genetics, General Hospital of Mexico, Faculty of Medicine, University of Mexico, Mexico City, Mexico.
Chiñas-Lopez
Silvet
S
Vaca
Ana Luisa Jimenez
AL
Arenas-Sordo
M Luz
ML
Kofman-Alfaro
Susana
S
Messina-Baas
Olga
O
Cuevas-Covarrubias
Sergio Alberto
SA
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
D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins