Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B

This study elucidates the molecular mechanism of the F9 c.520 + 13 A > G variant, which activates a cryptic 5' splice site in intron 5, leading to an in-frame FIX (p.V174delinsGHNLM) with secretion defects and loss of protein function. And Engineered U1snRNA partially rescued the splicing defect.

Authors

C Wang
Dario Balestra (ORCID: https://orcid.org/0000-0002-6675-9429)
Meixiu Gu
Zhimin Meng
Huayang Zhang (ORCID: https://orcid.org/0000-0001-5207-8932)
W. Guo
Weitao Zhang (ORCID: https://orcid.org/0009-0003-2014-6314)
Yichao Guo
Beili Wang

Institutions

University of Ferrara (IT)
Fudan University (CN)
Shanghai Medical Information Center (CN)
Zhongshan Hospital of Xiamen University (CN)
Zhongshan Hospital (CN)
YangPu Geriatric Hospital (CN)

Publication Details

Journal: Human Genomics
Published: 2026-01-08
DOI: https://doi.org/10.1186/s40246-025-00890-y
Primary Topic: Hemophilia Treatment and Research
Type: article
Field-Weighted Citation Impact: 0.00

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article

Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B

C Wang, Dario Balestra, Meixiu Gu, Zhimin Meng et al.

Jan 8, 2026

Human Genomics

Hemophilia Treatment and Research

article

Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B

C Wang, Dario Balestra, Meixiu Gu, Zhimin Meng, Huayang Zhang, W. Guo, Weitao Zhang, Yichao Guo, Beili Wang

January 8, 2026article en

Abstract

This study elucidates the molecular mechanism of the F9 c.520 + 13 A > G variant, which activates a cryptic 5' splice site in intron 5, leading to an in-frame FIX (p.V174delinsGHNLM) with secretion defects and loss of protein function. And Engineered U1snRNA partially rescued the splicing defect.

Human GenomicsVol. 20(1)

University of Ferrara (IT), Fudan University (CN), Shanghai Medical Information Center (CN), Zhongshan Hospital of Xiamen University (CN), Zhongshan Hospital (CN), YangPu Geriatric Hospital (CN)

Openalex Percentile: Top 94%

Hemophilia Treatment and Research

DOI Open Access PDF OpenAlex

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Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B — C Wang, Dario Balestra, et al. · Human Genomics (2026) | TGRS Research Map | TGRS