Open Access

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

  • Authors:
    • Xinhua Huang
    • Ying Lin
    • Chuan Chen
    • Yi Zhu
    • Hongbin Gao
    • Tao Li
    • Bingqian Liu
    • Cancan Lyu
    • Ying Huang
    • Qingxiu Wu
    • Haichun Li
    • Chenjin Jin
    • Xiaoling Liang
    • Lin Lu
  • View Affiliations

  • Published online on: July 4, 2018     https://doi.org/10.3892/ijmm.2018.3752
  • Pages: 1819-1826
  • Copyright: © Huang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Stickler syndrome is a group of inherited connective tissue disorders characterized by distinctive facial and ocular abnormalities, hearing loss and early‑onset arthritis. The aim of the present study was to investigate the genetic changes in two Chinese patients with Stickler syndrome, manifested as bilateral retinal detachment and peripheral retinal degeneration. Complete ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination and fundus examination, were performed. Genomic DNA was extracted from leukocytes of the peripheral blood collected from the patients, their unaffected family members and 200 unrelated control subjects from the same population. Next‑generation sequencing of established genes associated with ocular disease was performed. A heterozygous collagen type II α1 chain (COL2A1) mutation c.1310G>C (p.R437P) in exon 21 was identified in Family 1 and a heterozygous COL2A1 mutation c.2302‑1G>A in intron 34 was identified in Family 2. The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis. The c.1310G>C mutation was predicted to damage protein structure and function, and the c.2302‑1G>A mutation was predicted to result in a splicing defect. The findings of the current study expand the established mutation spectrum of COL2A1, and may facilitate genetic counseling and development of therapeutic strategies for patients with Stickler syndrome.
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October 2018
Volume 42 Issue 4

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

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APA
Huang, X., Lin, Y., Chen, C., Zhu, Y., Gao, H., Li, T. ... Lu, L. (2018). Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. International Journal of Molecular Medicine, 42, 1819-1826. https://doi.org/10.3892/ijmm.2018.3752
MLA
Huang, X., Lin, Y., Chen, C., Zhu, Y., Gao, H., Li, T., Liu, B., Lyu, C., Huang, Y., Wu, Q., Li, H., Jin, C., Liang, X., Lu, L."Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment". International Journal of Molecular Medicine 42.4 (2018): 1819-1826.
Chicago
Huang, X., Lin, Y., Chen, C., Zhu, Y., Gao, H., Li, T., Liu, B., Lyu, C., Huang, Y., Wu, Q., Li, H., Jin, C., Liang, X., Lu, L."Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment". International Journal of Molecular Medicine 42, no. 4 (2018): 1819-1826. https://doi.org/10.3892/ijmm.2018.3752