Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia
We identified biallelic loss-of-function BPNT1 mutations in three patients with recurrent vitamin B12-dependent megaloblastic anemia. Mechanistically, BPNT1 deficiency caused accumulation of 3'-phosphoadenosine 5'-phosphate (PAP), impaired ribosome biogenesis, and reduced ileal expression of the cubam receptor complex in Bpnt1-null mice.
Authors
- Binbin Lin
- N Wang
- Ru‐Ying Yuan (ORCID: https://orcid.org/0000-0001-8438-1899)
- Yi‐Heng Zeng (ORCID: https://orcid.org/0000-0003-2020-752X)
- Wen-Hao Xiao
- Wan‐Jin Chen (ORCID: https://orcid.org/0000-0002-9472-8494)
- Xuewen Cheng (ORCID: https://orcid.org/0000-0001-9898-4404)
- Chun‐Yan Cao
- Min-Kun Fang
- Dan-Dan Zuo
- Wei Luo (ORCID: https://orcid.org/0000-0001-6951-7698)
- Xiao-Sheng Zheng (ORCID: https://orcid.org/0000-0001-6486-5079)
- Yun-Hong Li
- Ting Yang (ORCID: https://orcid.org/0000-0001-6604-8937)
Institutions
- Fujian Medical University (CN)
- Zhengzhou University (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- Henan Provincial People's Hospital (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
Publication Details
- Journal
- Blood
- Published
- 2026-05-21
- DOI
- https://doi.org/10.1182/blood.2026033550
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00