Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 462-464, 2019.
Article
in Zh
| WPRIM
| ID: wpr-771990
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Prenatal Diagnosis
/
Retinal Degeneration
/
Spasms, Infantile
/
Blindness
/
Genetic Diseases, X-Linked
/
Eye Proteins
/
Nerve Tissue Proteins
/
Nervous System Diseases
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article