Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease].
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Yang Xinmiao, Li Wenwen, Shen Xueping, Shao Huifen, Shen Guosong
Аннотация
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.
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.