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Article Open Access

Identification of novel cadherin 23 variants in a Chinese family with hearing loss

  • Authors:
    • Tianni Xu
    • Wei Zhu
    • Ping Wang
    • Haonan Li
    • Shuyuan Yu
  • View Affiliations / Copyright

    Affiliations: Department of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China
    Copyright: © Xu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2609-2616
    |
    Published online on: July 15, 2019
       https://doi.org/10.3892/mmr.2019.10503
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Abstract

The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non‑syndromic hearing loss. The present study focused on a Chinese family with hearing loss in which there were two siblings with autosomal, recessive deafness, ranging from severe to profound hearing loss over all frequencies. DNA sequencing was used to assess the genetic factors in the disease etiology. The data revealed a compound heterozygous mutation of CDH23 in both patients. Genetic CDH23 variants are known to be responsible for non‑syndromic hearing loss, and CDH23 variants frequently occur in various populations, including Japanese and Republic of Korean. Results from the present study, indicated a significant contribution of CDH23 variants to the non‑syndromic hearing loss in Chinese patients.
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Copy and paste a formatted citation
Spandidos Publications style
Xu T, Zhu W, Wang P, Li H and Yu S: Identification of novel cadherin 23 variants in a Chinese family with hearing loss. Mol Med Rep 20: 2609-2616, 2019.
APA
Xu, T., Zhu, W., Wang, P., Li, H., & Yu, S. (2019). Identification of novel cadherin 23 variants in a Chinese family with hearing loss. Molecular Medicine Reports, 20, 2609-2616. https://doi.org/10.3892/mmr.2019.10503
MLA
Xu, T., Zhu, W., Wang, P., Li, H., Yu, S."Identification of novel cadherin 23 variants in a Chinese family with hearing loss". Molecular Medicine Reports 20.3 (2019): 2609-2616.
Chicago
Xu, T., Zhu, W., Wang, P., Li, H., Yu, S."Identification of novel cadherin 23 variants in a Chinese family with hearing loss". Molecular Medicine Reports 20, no. 3 (2019): 2609-2616. https://doi.org/10.3892/mmr.2019.10503
Copy and paste a formatted citation
x
Spandidos Publications style
Xu T, Zhu W, Wang P, Li H and Yu S: Identification of novel cadherin 23 variants in a Chinese family with hearing loss. Mol Med Rep 20: 2609-2616, 2019.
APA
Xu, T., Zhu, W., Wang, P., Li, H., & Yu, S. (2019). Identification of novel cadherin 23 variants in a Chinese family with hearing loss. Molecular Medicine Reports, 20, 2609-2616. https://doi.org/10.3892/mmr.2019.10503
MLA
Xu, T., Zhu, W., Wang, P., Li, H., Yu, S."Identification of novel cadherin 23 variants in a Chinese family with hearing loss". Molecular Medicine Reports 20.3 (2019): 2609-2616.
Chicago
Xu, T., Zhu, W., Wang, P., Li, H., Yu, S."Identification of novel cadherin 23 variants in a Chinese family with hearing loss". Molecular Medicine Reports 20, no. 3 (2019): 2609-2616. https://doi.org/10.3892/mmr.2019.10503
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