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Article

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes

  • Authors:
    • Yunlong Li
    • Baosheng Zhu
  • View Affiliations / Copyright

    Affiliations: Medical Faculty, Affiliated Hospital of Kunming University of Science and Technology (The First People's Hospital of Yunnan Province), Kunming University of Science and Technology, Kunming, Yunan 650500, P.R. China
  • Pages: 319-324
    |
    Published online on: May 13, 2016
       https://doi.org/10.3892/mmr.2016.5280
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Abstract

Mutations in the SLC26A4 gene have been shown to cause a type of deafness referred to as large vestibular aqueduct syndrome (LVAS), whereas mutations in the GJB3 gene have been associated with nonsyndromic deafness. However, the clinical phenotypes of these mutations vary and remain to be fully elucidated. The present study performed genetic analysis of a Chinese family, in which the child was deaf and the parents were healthy. Sanger sequencing demonstrated that the affected individual harbored three heterogeneous mutations in the SLC26A4 and GJB3 genes, as follows: SLC26A4 IVS-2 A>G, SLC26A4 c.2168 A>G and GJB3 c.538 C>T. The affected individual exhibited hearing loss and was diagnosed with LVAS by computed tomography scan. The mother and father of the affected individual harbored the heterogeneous mutations of SLC26A4 IVS-2 A>G and GJB3 c.538 C>T, and the heterozygous mutation of SLC26A4 c.2168 A>G, respectively. Neither parents exhibited any hearing loss. The results obtained from the deaf patient provided genetic and clinical evidence that carrying combined heterogeneous mutations in the GJB3 and SLC26A4 genes may be involved in the etiology of severe hearing loss, of which the mechanism requires further examination.
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Copy and paste a formatted citation
Spandidos Publications style
Li Y and Zhu B: Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Mol Med Rep 14: 319-324, 2016.
APA
Li, Y., & Zhu, B. (2016). Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Molecular Medicine Reports, 14, 319-324. https://doi.org/10.3892/mmr.2016.5280
MLA
Li, Y., Zhu, B."Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes". Molecular Medicine Reports 14.1 (2016): 319-324.
Chicago
Li, Y., Zhu, B."Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes". Molecular Medicine Reports 14, no. 1 (2016): 319-324. https://doi.org/10.3892/mmr.2016.5280
Copy and paste a formatted citation
x
Spandidos Publications style
Li Y and Zhu B: Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Mol Med Rep 14: 319-324, 2016.
APA
Li, Y., & Zhu, B. (2016). Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Molecular Medicine Reports, 14, 319-324. https://doi.org/10.3892/mmr.2016.5280
MLA
Li, Y., Zhu, B."Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes". Molecular Medicine Reports 14.1 (2016): 319-324.
Chicago
Li, Y., Zhu, B."Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes". Molecular Medicine Reports 14, no. 1 (2016): 319-324. https://doi.org/10.3892/mmr.2016.5280
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