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.
| Autor: | Talebi F; Ahvaz Welfare Organization, Ahvaz, Iran., Ghanbari Mardasi F; Department of Midwifery, Shoushtar Faculty of Medical Science, Shoushtar, Iran. Electronic address: ghanbari246@gmail.com., Mohammadi Asl J; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Science, Ahvaz, Iran., Lashgari A; Department of Ophthalmology, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran., Farhadi F; Department of Social Science, Islamic Azad University of Shoushtar, Shoushtar, Iran. |
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| Jazyk: | angličtina |
| Zdroj: | Cell journal [Cell J] 2018 Jul; Vol. 20 (2), pp. 290-292. Date of Electronic Publication: 2018 Mar 18. |
| DOI: | 10.22074/cellj.2018.5090 |
| Abstrakt: | 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. 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 prenatal diagnosis 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 prenatal diagnosis of an Iranian family with ND, and highlights the importance of prenatal diagnostic screening of this congenital disorder and relevant genetic counseling. Competing Interests: There is no conflict of interest in this study. (Copyright© by Royan Institute. All rights reserved.) |
| Databáze: | MEDLINE |
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