Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease.
10.3760/cma.j.issn.1003-9406.2019.05.011
- Author:
Xinmiao YANG
1
;
Wenwen LI
;
Xueping SHEN
;
Huifen SHAO
;
Guosong SHEN
Author Information
1. Huzhou Maternity and Child Health Care Hospital, Zhejiang 313000, China. Email: hzfbysgs@163.com.
- Publication Type:Journal Article
- MeSH:
Blindness;
congenital;
Eye Proteins;
Female;
Genetic Diseases, X-Linked;
Humans;
Nerve Tissue Proteins;
Nervous System Diseases;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Retinal Degeneration;
Spasms, Infantile
- From:
Chinese Journal of Medical Genetics
2019;36(5):462-464
- CountryChina
- Language:Chinese
-
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.
CONCLUSION:The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
