ArticleThe Annals of otology, rhinology, and laryngology2015
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
Article in The Annals of otology, rhinology, and laryngology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.Biomedicines · 2023Review
- A New Treatment Option in Incomplete Partition Type III: The Varese Bone-Air Stimulation (B.A.S.).Journal of personalized medicine · 2023Article
- Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.Ibrain · 2022Review
- A New Pathogenic Variant inGenes · 2021Article
- Cochlear Implantation in a Patient with a NovelNeural plasticity · 2020Article
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Human mutation · 2018Article
- Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.BMC medical genetics · 2018Article
- HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.BMC medical genetics · 2017Article
- mirDNMR: a gene-centered database of background de novo mutation rates in human.Nucleic acids research · 2017Article
- Navigating genetic diagnostics in patients with hearing loss.Current opinion in pediatrics · 2016Review
- A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2016Article
- Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.PloS one · 2016Article
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Authors and funding
10 authors.
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Abstract
objectivesIn this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene.
methodsOne hundred ninety-four (194) Japanese subjects from unrelated and nonconsanguineous families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes for identifying the genetic causes of hearing loss.
resultsA novel de novo frameshift mutation of POU3F4 to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation.
conclusionThis is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation.
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