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
Dans Chinois
| WPRIM
| ID: wpr-771990
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Diagnostic prénatal
/
Dégénérescence de la rétine
/
Spasmes infantiles
/
Cécité
/
Maladies génétiques liées au chromosome X
/
Protéines de l'oeil
/
Protéines de tissu nerveux
/
Maladies du système nerveux
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article
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