Genetic Variants in OTOF and PJVK Genes in Chinese Patients with Auditory Neuropathy Spectrum Disorder
Author Information
Author(s): Jian Wang, Ying-ying Fan, Shu-juan Wang, Peng-Fei Liang, Jin-ling Wang, Jian-hua Qiu
Primary Institution: Fourth Military Medical University, Xi'an, Shannxi, China
Hypothesis
The study aims to identify OTOF and PJVK mutations in sporadic ANSD patients.
Conclusion
The study identified several possible pathogenic variants in the OTOF and PJVK genes, suggesting the importance of genetic screening in sporadic ANSD patients.
Supporting Evidence
- Identified one pathogenic mutation and three novel possibly pathogenic variants in the OTOF gene.
- Found one novel possibly pathogenic variant in the PJVK gene.
- Study emphasizes the importance of genetic screening in sporadic ANSD patients.
Takeaway
Doctors looked at the genes of 76 Chinese patients with hearing problems and found some changes that might cause their issues.
Methodology
Patients were sequenced for OTOF and PJVK genes, and variants were compared with controls.
Limitations
The pathogenicity of some novel mutations needs further study due to their single heterozygous nature.
Participant Demographics
76 unrelated Chinese non-syndromic ANSD patients, 45 females and 31 males.
Digital Object Identifier (DOI)
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