Past Issue

Volume 20, Number 2, Summer 2018, Serial Number: 78, Pages: 290-292

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family

Farah Talebi, M.Sc, 1, Farideh Ghanbari Mardasi, M.Sc, 2, *, Javad Mohammadi Asl, Ph.D, 3, Ali Lashgari, M.D., 4, Freidoon Farhadi, M.Sc., 5,
Ahvaz Welfare Organization, Ahvaz, Iran
Department of Midwifery, Shoushtar Faculty of Medical Science, Shoushtar, Iran
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Science, Ahvaz, Iran
Department of Ophthalmology, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran
Department of Social Science, Islamic Azad University of Shoushtar, Shoushtar, Iran
*Corresponding Address: P.O.Box: 6494115333 Department of Midwifery Shoushtar Faculty of Medical Science Shoushtar Iran


Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of the X chromosome (Xp11.3). The disease has been observed in many ethnic groups worldwide, however, no such case has been reported from Iran. In this study, we present the molecular analysis of two patients with ND and the subsequent prenatal diagnosis (PND). Screening of NDP identified a hemizygous missense mutation (p.Ser133Cys) in the affected male siblings of the family. The mother was the carrier for the mutation (p.Ser133Cys). In a subsequent chorionic amniotic pregnancy, we carried out PND by sequencing NDP in the chorionic villi sample at 11 weeks of gestation. The fetus was carrying the mutation and thus unaffected. This is the first mutation report and PND of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling.