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TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study.

Wo-Tu TianFei-Xia ZhanZhen-Hua LiuZhe LiuQing LiuXia-Nan GuoZai-Wei ZhouShi-Ge WangXiao-Rong LiuJiang HongXun-Hua LiGuo-Hua ZhaoHai-Yan LiJian-Guang TangGuang-Hui BiPing ZhongXiao-Meng YinTao-Tao LiuRui-Long NiHao-Ran ZhengXiao-Li LiuXiao-Hang QianJing-Ying WuYu-Wen CaoChao ZhangShi-Hua LiuYing-Ying WuQun-Feng WangTing XuWen-Zhe HouZi-Yi LiHui-Yi KeZe-Yu ZhuLan ZhengTian WangTian-Yi RongLi WuYu ZhangKan FangZhan-Hang WangYa-Kun ZhangMei ZhangYu-Wu ZhaoBei-Sha TangXing-Hua LuanXiao-Jun HuangZhaoxia Wang
Published in: Movement disorders : official journal of the Movement Disorder Society (2021)
We consolidated mutations in TMEM151A causing PKD with the aid of case-control analysis of a large-scale WES data, which broadens the genotypic spectrum of PKD. TMEM151A-related PKD were more common in sporadic cases and tended to present as pure phenotype with a late onset. Extensive functional studies are needed to enhance our understanding of the pathogenesis of TMEM151A-related PKD. © 2021 International Parkinson and Movement Disorder Society.
Keyphrases
  • late onset
  • polycystic kidney disease
  • case control
  • early onset
  • atrial fibrillation
  • electronic health record
  • copy number
  • big data
  • machine learning
  • dna methylation