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Strabismus Volume 32, 2024 - Issue 1
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Research Article

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome

Minshu Wanga Department of Ophthalmology, Peking University Third Hospital, Beijing;b Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, BeijingView further author information
, MD, PhD,
Jing Liua Department of Ophthalmology, Peking University Third Hospital, Beijing;b Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, BeijingView further author information
, MD,
Honglei Panga Department of Ophthalmology, Peking University Third Hospital, Beijing;b Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, BeijingView further author information
, BS &
Juan Bua Department of Ophthalmology, Peking University Third Hospital, BeijingCorrespondence[email protected]
View further author information
, MD
Pages 23-29 | Published online: 20 Mar 2024

References

  • Pa DR, Ar C, Rs W, Guo S. Duane’s retraction syndrome. J Neuroophthalmol. 1994;14(2):126. doi:10.1097/00041327-199406000-00031.
  • Akbari MR, Manouchehri V, Mirmohammadsadeghi A. Surgical treatment of Duane retraction syndrome(Review). J Curr Ophthalmol. 2017;29(4):248–257. doi:10.1016/j.joco.2017.08.008.
  • Huber A. Electrophysiology of the retraction syndromes. British J Ophthalmol. 1974;58(3):293–300. doi:10.1136/bjo.58.3.293.
  • Tao S, Ying K, Daming D, Zhonghao W, Xuan Q, Jianhua Y. Variant types of Duane retraction syndrome: synergistic divergences and convergences. J AAPOS. 2021;25(1):14.e1–14.e6. doi:10.1016/j.jaapos.2020.10.007.
  • Rousan LA, Qased ABL, Audat ZA, Ababneh LT, Jaradat SA. Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families. Ophthalmic Genet. 2019;40(2):150–6. doi:10.1080/13816810.2019.1592199.
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics. 2010;25(14):1754–1760. doi:10.1093/bioinformatics/btp324.
  • Du W, Bu J, Dong JM, et al. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. Mol Vis. 2011;17(297–99):2765–2768.
  • Demet Y, Jean-Jacques Orban de X, Philippe L. Review of the major findings about Duane Retraction Syndrome (DRS) leading to an updated form of classification. Vision Res. 2010;50(23):2334–2347. doi:10.1016/j.visres.2010.08.019.
  • Demer JL, Clark RA, Lim KH, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane’s retraction syndrome linked to the DURS2 locus. Invest Ophthalmol Vis Sci. 2007;48(1):194–202. doi:10.1167/iovs.06-0632.
  • Xia S, Li RL, Li YP, Qian XH, Chong V, Qi J. MRI findings in Duane’s ocular retraction syndrome. Clin Radiol. 2014;(5):e191–e8. doi:10.1016/j.crad.2013.12.010.
  • Arif OKMD, Darren TOOC, Nada Al-Tassan Ph D, Latifa Al-Sharif B, Thomas MBMD. Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)(Article). Ophthalmology. 2008;115(12):2262–2265. doi:10.1016/j.ophtha.2008.08.010.
  • Bhagya Lakshmi M, Ruby M, Ramesh K. Binocular function in subjects with orthotropic Duane retraction syndrome. J Binocul Vis Ocul Motil. 2019;69(2):64–68. doi:10.1080/2576117X.2019.1602458.
  • Jiao YH, Zhao KX, Lu W, Wu X, Wang JH, Zhang FH. Surgical management of large-angle incomitant strabismus in patients with oculomotor nerve palsy(Article). J AAPOS. 2008;12(1):49–53. doi:10.1016/j.jaapos.2007.07.008.
  • Chloé Angelini AT, Arveiler B, Espil-Taris C, et al. CHN1 and Duane retraction syndrome: expanding the phenotype to cranial nerves development disease. Eur J Med Genet. 2021;64(4):104188. doi:10.1016/j.ejmg.2021.104188.
  • Biler ED, Ilim O, Onay H, Uretmen O. CHN1 gene mutation analysis in patients with Duane retraction syndrome. J AAPOS. 2017;21(6):472–475.e2. doi:10.1016/j.jaapos.2017.07.208.
  • Volk AE, Fricke J, Strobl J, Kolling G, Kubisch C, Neugebauer A. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders. Graefes Arch Clin Exp Ophthalmol. 2011;(9):1351–1357. doi:10.1007/s00417-010-1417-7.
  • Noriko M, John C, Maria P, et al. Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome. Science. 2008;321(5890):839–843. doi:10.1126/science.1156121.
  • Nugent AA, Park JG, Wei Y, et al. Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. J Clin Invest. 2017;127(5):1664–82. doi:10.1172/JCI88502.
  • Noriko M, Joseph LD, Sherin S, et al. Expansion of the CHN1 strabismus phenotype. Invest Ophthalmol Vis Sci. 2011;52(9):6321–6328. doi:10.1167/iovs.11-7950.

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