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

Blood - 30 Jul 2026

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

Abstract excerpt

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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Identifiers

PMID: 42166360
DOI: 10.1182/blood.2026033550

Genes

BPNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia.PMID 42166360Read ↗

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