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Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.

Orphanet journal of rare diseases - 25 Nov 2024

Guo Zhenglong, Huo Dawei, Shao Yingying, Yang Wenke, Wang Jinming, Zhang Yuwei, Xiao Hai, Hao Bingtao, Liao Shixiu

Abstract excerpt

BACKGROUND: Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this is influenced by the function of iron-responsive element-binding protein 2 (IRP2), encoded by the IREB2 gene. Since 2019, three cases of a genetic neurodegenerative syndrome resulting from compound heterozygous mutations in IREB2 have been documented, highlighting the crucial role of IRP2 in...

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PMID: 39587636
DOI: 10.1186/s13023-024-03465-7
PMCID: PMC11587613

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