Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia

• Ke Deng,
• Haibo Ruan,
• Feifei Yu,
• Zhenle Pei,
• Congjian Xu,
• Shuo Zhang

Affiliations

Ke Deng

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200000, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200000, China

Haibo Ruan

The First People's Hospital of Wenling, Wenling, Zhejiang 317500, China

Feifei Yu

Rushan Hospital of Traditional Chinese Medicine, Rushan, Shandong 264599, China

Zhenle Pei

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200000, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200000, China

Congjian Xu

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200000, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200000, China; Department of Obstetrics and Gynecology, Fudan University, Shanghai 200000, China; Corresponding author. Obstetrics and Gynecology Hospital of Fudan University, Fangxie Road 566#, Shanghai 200000, China.

Shuo Zhang

Shanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200000, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200000, China; Corresponding author. Obstetrics and Gynecology Hospital of Fudan University, Fangxie Road 566#, Shanghai 200000, China.