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Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease / 中华医学遗传学杂志
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.
Subject(s)
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
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