ArticleBMC medical genetics2015
Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- The Diverse Genetic Landscape of Hearing Impairment in South African Families.Clinical genetics · 2025Article
- Genetic Characteristics and Audiological Performance After Cochlear Implantation in Patients With Incomplete Partition Type III.Clinical and experimental otorhinolaryngology · 2023Article
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.Biomedicines · 2023Review
- Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.Orphanet journal of rare diseases · 2022Article
- Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.Ibrain · 2022Review
- Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.Bioscience reports · 2021Article
- A New Pathogenic Variant inGenes · 2021Article
- Next-Generation Sequencing Identifies Pathogenic Variants inNeural plasticity · 2021Article
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- Prospects of genetic testing for steroid-resistant nephrotic syndrome in Nigerian children: a narrative review of challenges and opportunities.International journal of nephrology and renovascular disease · 2019Review
- Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.BMC medical genetics · 2018Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.Journal of human genetics · 2018Article
- Medical genetics and genomic medicine in Nigeria.Molecular genetics & genomic medicine · 2018Article
- AChinese medical journal · 2017Article
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies.
methodsThree Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families.
resultsFour novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families.
conclusionsExpanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.
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