Biallelic loss-of-function mutations in <i>BPNT1</i> cause vitamin B12–dependent megaloblastic anemia
Abstract
Abstract We identified biallelic loss-of-function BPNT1 mutations in 3 patients with recurrent vitamin B12–dependent megaloblastic anemia. Mechanistically, BPNT1 deficiency caused the accumulation of PAP (3′-phosphoadenosine 5′-phosphate), impaired ribosome biogenesis, and reduced ileal expression of the cubilin/amnionless receptor complex in Bpnt1-null mice.
Article Details
Authors (14)
Yi-Heng Zeng
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Yun-Hong Li
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Ru-Ying Yuan
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Dan-Dan Zuo
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Xiao-Sheng Zheng
4Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
Wen-Hao Xiao
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Min-Kun Fang
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Bin-Bin Lin
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China
Chun-Yan Cao
6Department of Neurology, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, China
Xue-Wen Cheng
7Lin Gang Laboratory, Shanghai, China
Ning Wang
Ting Yang
Key Laboratory for Soft Chemistry and Functional Materials of Ministry Education, School of Chemistry and Chemical Engineering
Wei Luo
Wan-Jin Chen