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Biallelic loss-of-function mutations in BPNT1 cause vitamin B12–dependent megaloblastic anemia

Year: 2026

Type: article

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.

Source: Blood

DOI: 10.1182/blood.2026033550

Authors: Yi-Heng Zeng, Yun-Hong Li, Ru-Ying Yuan, Dan-Dan Zuo, Xiao-Sheng Zheng, Wen-Hao Xiao, Min-Kun Fang, Bin-Bin Lin, Chun-Yan Cao, Xue-Wen Cheng, Ning Wang, Ting Yang, Wei Luo, Wan-Jin Chen

Institutions: Fujian Medical University, First Affiliated Hospital of Fujian Medical University, Second Affiliated Hospital of Zhejiang University, Zhejiang University, Zhengzhou University, Henan Provincial People's Hospital

Language: English

Topic: Folate and B Vitamins Research

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $5,500

OpenAlex ID: W7161972249

FWCI:

Cites: 20

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