Identification of a novel mutation in the Norrie disease gene: the first molecular analysis and prenatal diagnosis of Norrie disease in an Iranian family

Background: Norrie disease (ND) is a rare X-linked, recessive disorder, which is characterized by congenital blindness and in several cases mental retardation and deafness. ND is caused by mutations in the NDP gene, located on the proximal short arm of X chromosome (Xp11.3). The disease has been reported from around the world in different ethnic groups, but none from Iran.Methods: In this study, in order to verify ND in two patients with clinical symptoms, variations analysis of NDP gene incorporated in ND and subsequently prenatal diagnosis (PND) were done for the first time in the Iranian population by Sanger Sequencing.Result: Molecular analysis of the NDP gene identified a hemizygous missense mutation in codon 133 in the affected patients. Mother was carrier for the identified mutation. In a subsequent di-chorionic diamniotic pregnancy, prenatal diagnosis (PND) by sequence analysis on chorionic villi sample was carried out at 11 week of gestation. The fetus was unaffected.Conclusion: This is a first mutation report on prenatal diagnosis of an Iranian family with ND and highlights the importance of molecular analysis for confirmation, prenatal diagnosis, carrier testing, and genetic counseling .

کلیدواژه ها:

Molecular analysis ، NDP gene ، Novel mutation ، Norrie disease