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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 / Copyright

    Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510060, P.R. China, Department of Toxicology, School of Public Health and Tropical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China
    Copyright: © Huang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1819-1826
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    Published online on: July 4, 2018
       https://doi.org/10.3892/ijmm.2018.3752
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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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Copy and paste a formatted citation
Spandidos Publications style
Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Wu Q, et al: Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. Int J Mol Med 42: 1819-1826, 2018.
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
Copy and paste a formatted citation
x
Spandidos Publications style
Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Wu Q, et al: Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment. Int J Mol Med 42: 1819-1826, 2018.
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
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