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Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract

  • Authors:
    • Ying Lin
    • Hongbin Gao
    • Yi Zhu
    • Chuan Chen
    • Tao Li
    • Bingqian Liu
    • Cancan Lyu
    • Ying Huang
    • Haichun Li
    • Qingxiu Wu
    • Chenjin Jin
    • Xiaoling Liang
    • Xinhua Huang
    • 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: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4439-4445
    |
    Published online on: September 10, 2018
       https://doi.org/10.3892/mmr.2018.9469
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Abstract

Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile‑onset glaucoma and foveal and optic nerve hypoplasia. Mutations in the Paired Box 6 (PAX6) gene on chromosome 11p13 have been demonstrated to cause aniridia. The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract. Complete ophthalmic and physical examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus examination, optical coherence tomography, ultrasound biomicroscopy, and Pentacam scanning. Genomic DNA was extracted from leukocytes of peripheral blood collected from the two patients, their unaffected parents and 200 unrelated control subjects from the same population. Exons 4‑13 of the PAX6 gene were amplified by polymerase chain reaction and sequenced directly. Patient 1 was affected with aniridia accompanied by congenital cataract and nystagmus. A novel heterozygous PAX6 frameshift mutation c.277delG (p.Glu93SerfsX31) in exon 6 was identified in this patient. Patient 2 was presented with aniridia, congenital cataract, lens subluxation and glaucoma. A recurrent nonsense mutation c.718C>T (p.Arg240X) in exon 9 was identified in this patient. The present results expand the mutation spectrum of PAX6 and will be valuable for genetic counseling in the affected families. Additionally, the identification of these mutations reiterates the importance of PAX6 in ocular development and sheds light on the pathogenesis of congenital aniridia.
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Copy and paste a formatted citation
Spandidos Publications style
Lin Y, Gao H, Zhu Y, Chen C, Li T, Liu B, Lyu C, Huang Y, Li H, Wu Q, Wu Q, et al: Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Mol Med Rep 18: 4439-4445, 2018.
APA
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B. ... Lu, L. (2018). Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Molecular Medicine Reports, 18, 4439-4445. https://doi.org/10.3892/mmr.2018.9469
MLA
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B., Lyu, C., Huang, Y., Li, H., Wu, Q., Jin, C., Liang, X., Huang, X., Lu, L."Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract". Molecular Medicine Reports 18.5 (2018): 4439-4445.
Chicago
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B., Lyu, C., Huang, Y., Li, H., Wu, Q., Jin, C., Liang, X., Huang, X., Lu, L."Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract". Molecular Medicine Reports 18, no. 5 (2018): 4439-4445. https://doi.org/10.3892/mmr.2018.9469
Copy and paste a formatted citation
x
Spandidos Publications style
Lin Y, Gao H, Zhu Y, Chen C, Li T, Liu B, Lyu C, Huang Y, Li H, Wu Q, Wu Q, et al: Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Mol Med Rep 18: 4439-4445, 2018.
APA
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B. ... Lu, L. (2018). Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract. Molecular Medicine Reports, 18, 4439-4445. https://doi.org/10.3892/mmr.2018.9469
MLA
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B., Lyu, C., Huang, Y., Li, H., Wu, Q., Jin, C., Liang, X., Huang, X., Lu, L."Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract". Molecular Medicine Reports 18.5 (2018): 4439-4445.
Chicago
Lin, Y., Gao, H., Zhu, Y., Chen, C., Li, T., Liu, B., Lyu, C., Huang, Y., Li, H., Wu, Q., Jin, C., Liang, X., Huang, X., Lu, L."Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract". Molecular Medicine Reports 18, no. 5 (2018): 4439-4445. https://doi.org/10.3892/mmr.2018.9469
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