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Published on: August 15, 2019
Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia
Yi-Heng Zeng1,2,3, Yun-Hong Li1,2,3, Ru-Ying Yuan1,2,3
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
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.
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