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Article Open Access

Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis

  • Authors:
    • Dingyuan Ma
    • Jingjing Zhang
    • Chunyu Luo
    • Ying Lin
    • Xiuqing Ji
    • Ping Hu
    • Zhengfeng Xu
  • View Affiliations / Copyright

    Affiliations: Department of Prenatal Diagnosis, State Key Laboratory of Reproductive Medicine, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210029, P.R. China
    Copyright: © Ma et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1967-1974
    |
    Published online on: January 13, 2016
       https://doi.org/10.3892/mmr.2016.4769
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Abstract

The aim of the present study was to investigate the genetic etiology of patients with nonsyndromic hearing impairment through gene analysis, and provide accurate genetic counseling and prenatal diagnosis for deaf patients and families with deaf children. Previous molecular etiological studies have demonstrated that the most common molecular changes in Chinese patients with nonsyndromic hearing loss (NSHL) involved gap junction protein β 2, solute carrier family 26, member 4 (SLC26A4), and mitochondrial DNA 12S rRNA. A total of 117 unrelated NSHL patients were included. Mutation screening was performed by Sanger sequencing in GJB2, 12S rRNA, and the hot‑spot regions of SLC26A4. In addition, patients with a single mutation of SLC26A4 in the hot‑spot regions underwent complete exon sequencing to identify a mutation in the other allele. A total of 36 of the 117 deaf patients were confirmed to have two pathogenic mutations, which included 4 deaf couples, husband or wife in 11 deaf couples and 17 deaf individuals. In addition, prenatal diagnoses was performed in 7 pregnant women at 18‑21 weeks gestation who had previously given birth to a deaf child, and the results showed that two fetal genotypes were the same as the proband's genotypes, four fetuses carried one pathogenic gene from their parents, and one fetus was identified to have no mutations. Taken together, the genetic testing of deaf patients can provide reasonable guidance to deaf patients and families with deaf children.
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Copy and paste a formatted citation
Spandidos Publications style
Ma D, Zhang J, Luo C, Lin Y, Ji X, Hu P and Xu Z: Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. Mol Med Rep 13: 1967-1974, 2016.
APA
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., & Xu, Z. (2016). Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. Molecular Medicine Reports, 13, 1967-1974. https://doi.org/10.3892/mmr.2016.4769
MLA
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., Xu, Z."Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis". Molecular Medicine Reports 13.3 (2016): 1967-1974.
Chicago
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., Xu, Z."Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis". Molecular Medicine Reports 13, no. 3 (2016): 1967-1974. https://doi.org/10.3892/mmr.2016.4769
Copy and paste a formatted citation
x
Spandidos Publications style
Ma D, Zhang J, Luo C, Lin Y, Ji X, Hu P and Xu Z: Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. Mol Med Rep 13: 1967-1974, 2016.
APA
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., & Xu, Z. (2016). Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis. Molecular Medicine Reports, 13, 1967-1974. https://doi.org/10.3892/mmr.2016.4769
MLA
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., Xu, Z."Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis". Molecular Medicine Reports 13.3 (2016): 1967-1974.
Chicago
Ma, D., Zhang, J., Luo, C., Lin, Y., Ji, X., Hu, P., Xu, Z."Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis". Molecular Medicine Reports 13, no. 3 (2016): 1967-1974. https://doi.org/10.3892/mmr.2016.4769
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