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Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.
Features include: Inner ear hearing loss (sensorineural hearing impairment).
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Inner ear hearing loss (sensorineural hearing impairment) |
PJVK function has not been fully characterized.
Autosomal recessive nonsyndromic hearing loss 59 is associated with mutations in the PJVK gene on chromosome 2.
Genetic testing for PJVK is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 59 has been reported in the published literature.
No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 59.
5 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 59. Research spans Diagnostic / Biomarker (40%), Clinical Trial Publication (20%), and Basic Science / Preclinical (20%).
Matsuura K (2026). [PMID: 41693037](https://pubmed.ncbi.nlm.nih.gov/41693037/). *Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology*. [Clinical Trial Publication]
Guan RR (2026). [PMID: 41521852](https://pubmed.ncbi.nlm.nih.gov/41521852/). *Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery*. [Basic Science / Preclinical]
Yalcouyé A (2025). [PMID: 39663698](https://pubmed.ncbi.nlm.nih.gov/39663698/). *HGG advances*. [Epidemiology / Natural History]
Elander J (2025). [PMID: 40685639](https://pubmed.ncbi.nlm.nih.gov/40685639/). *Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:20 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Ding Y (2025). [PMID: 40195191](https://pubmed.ncbi.nlm.nih.gov/40195191/). *European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery*. [Diagnostic / Biomarker]