Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease
Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics
Published:
Abstract
Objective: To detect mutation of NDP gene in a pedigree affected with Norrie disease.
Methods: Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.
Results: Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.
Conclusions: The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
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