Article
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
Metabolic brain disease - 1 Aug 2017
Cao Binbin, Yang Xiaoping, Chen Yinyin, Huang Qionghui, Wu Ye, Gu Qiang, Xiao Jiangxi, Yang Huixia, Pan Hong, Chen Junya, Sun Yu, Ren Li, Zhao Chengfeng, Deng Yanhua, Yang Yanling, Chang Xingzhi, Yang Zhixian, Zhang Yuehua, Niu Zhengping, Wang Juli, Wu Xiru, Wang Jingmin, Jiang Yuwu
Abstract excerpt
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19...
Topics
- China
- Copper-Transporting ATPases
- Female
- Genetic Testing
- Humans
- Male
- Menkes Kinky Hair Syndrome
- Mutation
- Pregnancy
- Prenatal Diagnosis