Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15-Reference-Cited by-同舟云学术

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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15

Published:2025-01-15 Issue:1 Volume:15 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Pan Jianyan,Teng Hua,Liu Fang,Chen Siyi,Liu Yaning,Teng Yanling,Liang Desheng,Li Zhuo,Wu Lingqian

Funder

Fundamental Research Funds for the Central Universities of Central South University

National Key R&D Program of China

Hunan Provincial Natural Science Foundation of China

Open Research Funds of the State Key Laboratory of Ophthalmology

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-025-85881-8.pdf

Reference33 articles.

1. Kim, H. J. et al. SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One 8, e79063. https://doi.org/10.1371/journal.pone.0079063 (2013).

2. Vahava, O. et al. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science 279, 1950–1954. https://doi.org/10.1126/science.279.5358.1950 (1998).

3. He, L., Pang, X., Chen, P., Wu, H. & Yang, T. Mutation in the Hair Cell Specific Gene POU4F3 is a Common cause for autosomal Dominant Nonsyndromic hearing loss in Chinese Hans. Neural Plast. 2016 (9890827). https://doi.org/10.1155/2016/9890827 (2016).

4. Pauw, R. J. et al. Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. Arch. Otolaryngol. Head Neck Surg. 134, 294–300. https://doi.org/10.1001/archotol.134.3.294 (2008).

5. Collin, R. W. et al. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum. Mutat. 29, 545–554. https://doi.org/10.1002/humu.20693 (2008).

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