Open Access

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

  • Published online on: August 24, 2015     https://doi.org/10.3892/ijmm.2015.2322
  • Pages: 1035-1041
  • Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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October-2015
Volume 36 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

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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