ArticleJournal of human genetics2017
Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 25 citations in OpenAlex.
- LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL).Human genomics · 2023Article
- Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.Scientific reports · 2023Article
- Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.European journal of human genetics : EJHG · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- NcRNA: key and potential in hearing loss.Frontiers in neuroscience · 2023Review
- Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4.Genes & genomics · 2022Article
- Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.Biomedicines · 2022Article
- Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Bioscience reports · 2021Article
- A MissenseBioMed research international · 2021Article
- Review
- Aldh inhibitor restores auditory function in a mouse model of human deafness.PLoS genetics · 2020Article
- Gene therapy development in hearing research in China.Gene therapy · 2020Review
- Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.Journal of cellular and molecular medicine · 2020Article
- Four Novel Variants inNeural plasticity · 2020Article
- Review
- A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.Journal of human genetics · 2018Article
- Review
- A Missense Mutation inBioMed research international · 2018Article
- A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.Scientific reports · 2017Article
- Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hearing impairment, or deafness (in its most severe form), is one of the most common human sensory disorders. There have been several reports of autosomal dominant mutations in the POU4F3 gene, which is associated with non-syndromic hearing loss. In this study, we identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 by taking advantage of whole-exome sequencing, which was validated by Sanger sequencing and completely co-segregated within a large hearing impaired Chinese family. We have focused on this pedigree since 2002, and we have mapped a deafness locus named DFNA42 (which has been renamed DFNA52, OMIM entry 607683) via a genome-wide scan. Furthermore, we analyzed this mutational variant and found that it was located at the beginning of the first functional domain of POU4F3, which could theoretically impair the function of POU4F3. We have identified a novel frameshift mutation in the POU4F3 gene. Further functional studies of variants of this specific gene are needed to illustrate the pathogenic mechanism(s) that underlie hearing impairment.
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