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

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.

CONCLUSION

The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.