[Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease].

To detect mutation of NDP gene in a pedigree affected with Norrie disease.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.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.The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.