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Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing

  • Authors:
    • Yue‑Chuan Fu
    • Na Chen
    • Zi‑Long Qiu
    • Lin Liu
    • Jie Shen
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, The Shanghai Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200120, P.R. China, Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai 200031, P.R. China
    Copyright: © Fu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 5016-5022
    |
    Published online on: October 2, 2018
       https://doi.org/10.3892/mmr.2018.9530
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Abstract

Retinitis pigmentosa (RP) is a common form of inherited retinal degeneration that causes progressive loss of vision or adult blindness, characterized by the impairment of rod and cone photoreceptors. At present, mutations in >60 pathogenic genes have been confirmed to cause RP. The predominant modes of inheritance are autosomal dominant, autosomal recessive and X‑linked. In addition, other modes of inheritance, including digenic or mitochondrial inheritance, have been reported. In previous decades, with the development of sequencing techniques, significant advances in identifying novel RP pathogenic genes and screening mutations have been made. In the present study, whole‑exome sequencing was performed on samples from two Chinese pedigrees diagnosed with RP. A compound heterozygous mutation in the gene usherin 2A (USH2A; c.6,485+5G>A/c.11,156G>A) and a heterozygous X‑linked mutation in the gene retinitis pigmentosa 2 (RP2) ARL3 GTPase‑activating protein (RP2; c.358C>T) were identified by Sanger sequencing and co‑segregation analysis, of which the pathogenic mutation (c.6,485+5G>A) in USH2A has not been previously reported among Chinese patients. The findings of the present study may expand on current knowledge of RP among the Chinese population, providing essential assistance in the molecular diagnosis and screening of RP, and promoting further investigation of the pathogenesis of RP.
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Copy and paste a formatted citation
Spandidos Publications style
Fu YC, Chen N, Qiu ZL, Liu L and Shen J: Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing. Mol Med Rep 18: 5016-5022, 2018.
APA
Fu, Y., Chen, N., Qiu, Z., Liu, L., & Shen, J. (2018). Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing. Molecular Medicine Reports, 18, 5016-5022. https://doi.org/10.3892/mmr.2018.9530
MLA
Fu, Y., Chen, N., Qiu, Z., Liu, L., Shen, J."Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing". Molecular Medicine Reports 18.6 (2018): 5016-5022.
Chicago
Fu, Y., Chen, N., Qiu, Z., Liu, L., Shen, J."Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing". Molecular Medicine Reports 18, no. 6 (2018): 5016-5022. https://doi.org/10.3892/mmr.2018.9530
Copy and paste a formatted citation
x
Spandidos Publications style
Fu YC, Chen N, Qiu ZL, Liu L and Shen J: Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing. Mol Med Rep 18: 5016-5022, 2018.
APA
Fu, Y., Chen, N., Qiu, Z., Liu, L., & Shen, J. (2018). Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing. Molecular Medicine Reports, 18, 5016-5022. https://doi.org/10.3892/mmr.2018.9530
MLA
Fu, Y., Chen, N., Qiu, Z., Liu, L., Shen, J."Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing". Molecular Medicine Reports 18.6 (2018): 5016-5022.
Chicago
Fu, Y., Chen, N., Qiu, Z., Liu, L., Shen, J."Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole‑exome sequencing". Molecular Medicine Reports 18, no. 6 (2018): 5016-5022. https://doi.org/10.3892/mmr.2018.9530
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