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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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October-2015 Volume 36 Issue 4

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Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family

  • Authors:
    • Sui-Lian Zheng
    • Hong-Liang Zhang
    • Zhen-Lang Lin
    • Qian-Yan Kang
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, The First Affiliated Hospital, Xi'an Jiaotong University School of Medicine, Xi'an, Shaanxi 710061, P.R. China, Anyang Eye Hospital, Anyang, Henan 455000, P.R. China, The Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China
    Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1035-1041
    |
    Published online on: August 24, 2015
       https://doi.org/10.3892/ijmm.2015.2322
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Abstract

Usher syndrome (USH) is an autosomal recessive (AR) multi-sensory degenerative disorder leading to deaf-blindness. USH is clinically subdivided into three subclasses, and 10 genes have been identified thus far. Clinical and genetic heterogeneities in USH make a precise diagnosis difficult. A dominant‑like USH family in successive generations was identified, and the present study aimed to determine the genetic predisposition of this family. Whole‑exome sequencing was performed in two affected patients and an unaffected relative. Systematic data were analyzed by bioinformatic analysis to remove the candidate mutations via step‑wise filtering. Direct Sanger sequencing and co‑segregation analysis were performed in the pedigree. One novel and two known mutations in the USH2A gene were identified, and were further confirmed by direct sequencing and co‑segregation analysis. The affected mother carried compound mutations in the USH2A gene, while the unaffected father carried a heterozygous mutation. The present study demonstrates that whole‑exome sequencing is a robust approach for the molecular diagnosis of disorders with high levels of genetic heterogeneity.
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Copy and paste a formatted citation
Spandidos Publications style
Zheng S, Zhang H, Lin Z and Kang Q: Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. Int J Mol Med 36: 1035-1041, 2015.
APA
Zheng, S., Zhang, H., Lin, Z., & Kang, Q. (2015). Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. International Journal of Molecular Medicine, 36, 1035-1041. https://doi.org/10.3892/ijmm.2015.2322
MLA
Zheng, S., Zhang, H., Lin, Z., Kang, Q."Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family". International Journal of Molecular Medicine 36.4 (2015): 1035-1041.
Chicago
Zheng, S., Zhang, H., Lin, Z., Kang, Q."Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family". International Journal of Molecular Medicine 36, no. 4 (2015): 1035-1041. https://doi.org/10.3892/ijmm.2015.2322
Copy and paste a formatted citation
x
Spandidos Publications style
Zheng S, Zhang H, Lin Z and Kang Q: Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. Int J Mol Med 36: 1035-1041, 2015.
APA
Zheng, S., Zhang, H., Lin, Z., & Kang, Q. (2015). Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. International Journal of Molecular Medicine, 36, 1035-1041. https://doi.org/10.3892/ijmm.2015.2322
MLA
Zheng, S., Zhang, H., Lin, Z., Kang, Q."Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family". International Journal of Molecular Medicine 36.4 (2015): 1035-1041.
Chicago
Zheng, S., Zhang, H., Lin, Z., Kang, Q."Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family". International Journal of Molecular Medicine 36, no. 4 (2015): 1035-1041. https://doi.org/10.3892/ijmm.2015.2322
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