Advanced search
Publication Cover
Current Eye Research Volume 43, 2018 - Issue 3
Submit an article Journal homepage
254
Views
7
CrossRef citations to date
0
Altmetric
Original Articles

Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract

Kai Jie WangBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
,
Xu ZhaDepartment of Ophthalmology, the Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China
,
Dou Dou ChenBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China
&
Si Quan ZhuBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University,Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, ChinaCorrespondence[email protected]
Pages 304-307 | Received 01 Jul 2017, Accepted 11 Nov 2017, Published online: 24 Jan 2018

References

  • Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol. 2004;49:300–15. doi:10.1016/j.survophthal.2004.02.013.
  • Li FF, Yang M, Ma X, Zhang Q, Zhang M, Wang SZ, Zhu SQ. Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation. Curr Eye Res. 2010;35:492–98. doi:10.3109/02713681003624901.
  • Shen C, Wang J, Wu X, Wang F, Liu Y, Guo X, Zhang L, Cao Y, Cao X, Ma H. Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family. BMC Ophthalmol. 2017;17:73. doi:10.1186/s12886-017-0476-5.
  • Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol. 2008;19:134–49. doi:10.1016/j.semcdb.2007.10.003.
  • Wang KJ, Wang BB, Zhang FJ, Zhao YY, Ma X, Zhu SQ. Novel β-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol. 2011;129:337–43. doi:10.1001/archophthalmol.2011.11.
  • Yang Z, Li Q, Ma Z, Guo Y, Zhu S, Ma X. A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis. 2011;17:2065–71.
  • Reddy MA, Bateman OA, Chakarova C, Ferris J, Berry V, Lomas E, Sarra R, Smith MA, Moore AT, Bhattacharya SS, et al. Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet. 2004;13:945–53. doi:10.1093/hmg/ddh110.
  • Mohebi M, Akbari A, Babaei N, Sadeghi A, Heidari M. Identification of a De Novo 3bp deletion in CRYBA1/A3 gene in autosomal dominant congenital cataract. Acta Med Iran. 2016;54:778–83.
  • Zhang J, Zhang Y, Fang F, Mu W, Zhang N, Xu T, Cao Q. Congenital cataracts due to a novel 2-bp deletion in CRYBA1/A3. Mol Med Rep. 2014;10:1614–18. doi:10.3892/mmr.2014.2324.
  • Qi Y, Jia H, Huang S, Lin H, Gu J, Su H, Zhang T, Gao Y, Qu L, Li D, et al. A deletion mutation in the betaA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet. 2004;114:192–97. doi:10.1007/s00439-003-1049-7.
  • Ferrini W, Schorderet DF, Othenin-Girard P, Uffer S, Héon E, Munier FL. CRYBA3/A1 gene mutation associated with suturesparing autosomal dominant congenital nuclear cataract: a novel phenotype. Invest Ophthalmol Vis Sci. 2004;45:1436–41. doi:10.1167/iovs.03-0760.
  • Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C. Two Chinese families with pulverulent congenital cataracts and ΔG91 CRYBA1 mutations. Mol Vis. 2007;13:1154–60.
  • Yang G, Zhai X, Zhao J. A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. Mol Vis. 2011;17:1559–63.
  • Sun W, Xiao X, Li S, Guo X, Zhang Q. Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis. 2011;17:2197–206.
  • Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol. 2004;88:79–83. doi:10.1136/bjo.88.1.79.
  • Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene. Mol Vis. 1998;4:21.
  • Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008;14:1157–70.
  • Gu Z, Ji B, Wan C, He G, Zhang J, Zhang M, Feng G, He L, Gao L. A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. Mol Vis. 2010;16:154–60.
  • Zhu Y, Shentu X, Wang W, Li J, Jin C, Yao K. A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis. 2010;16:2347–53.
  • Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J,Walter N, Moreira AT, Clancy K, Spence MA. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract. Invest Ophthalmol Vis Sci. 2000;41:3278–85.
  • Yu Y, Li J, Xu J, Wang Q, Yu Y, Yao K. Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1. Mol Vis. 2012;18:2213–20.
  • Yang Z, Su D, Li Q, Yang F, Ma Z, Zhu S, Ma X. A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family. Mol Vis. 2012;18:1283–88.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.