Advanced search
Publication Cover
Ophthalmic Genetics Volume 34, 2013 - Issue 1-2
Submit an article Journal homepage
769
Views
7
CrossRef citations to date
0
Altmetric
Letters to the Editor

A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family

Flavio FaletraInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, ItalyCorrespondence[email protected]
,
Adamo Pio d’AdamoInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
,
Stefano PensieroInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
,
Emmanouil AthanasakisInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
,
Dario CatalanoInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
,
Irene BrunoInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
&
Paolo GaspariniInstitute for Maternal and Child Health – IRCCS “Burlo Garofolo” – Trieste, University of Trieste, Italy
 show all
Pages 115-117 | Received 11 Apr 2012, Accepted 23 Jun 2012, Published online: 30 Jul 2012

REFERENCES

  • Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol. 2004; 49 (3):300–315.
  • Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am. J. Med. Genet. 75 (1998) 497e504.
  • Wang K, Wang B, Wang J, et al. A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. Mol Vis. 2009;15:2813–2820.
  • Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol. 2008;19 (2):134–149.
  • Huang B, He W. Molecular characteristics of inherited congenital cataracts. Eur J Med Genet. 2010 Nov–Dec;53 (6):347–357.
  • http://www.biobase-international.com/product/hgmd
  • Yao K, Li J, Jin C, Wang W, Zhu Y, Shentu X, Wang Q. Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family. Mol Vis. 2011 Jan 13;17:144–152.
  • Santhiya ST, Kumar GS, Sudhakar P, Gupta N, Klopp N, Illig T, Söker T, Groth M, Platzer M, Gopinath PM, Graw J. Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms. Mol Vis. 2010 Sep 10;16:1837–1847.
  • Wang KJ, Wang BB, Zhang F, Zhao Y, Ma X, Zhu SQ. Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts. Arch Ophthalmol. 2011 Mar;129 (3):337–343.
  • Lou D, Tong JP, Zhang LY, Chiang SW, Lam DS, Pang CP. A novel mutation in CRYBB2 responsible for inherited coronary cataract. Eye (Lond). 2009 May;23 (5):1213–1220.
  • Pauli S, Söker T, Klopp N, Illig T, Engel W, Graw J. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene. Mol Vis. 2007 Jun 19;13:962–967.
  • Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009 Jul;50 (7):3291–3303.
  • Santhiya ST, Manisastry SM, Rawlley D, Malathi R, Anishetty S, Gopinath PM, Vijayalakshmi P, Namperumalsamy P, Adamski J, Graw J. Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene. Invest Ophthalmol Vis Sci. 2004 Oct;45 (10):3599–3607.
  • Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet. 1997 May;6 (5):665–668.
  • Mothobi ME, Guo S, Liu Y, Chen Q, Yussuf AS, Zhu X, Fang Z. Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2. Mol Vis. 2009 Jul 30;15:1470–1475.
  • Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis. 2012;18:174–180.
  • Liu BF, Liang JJ. Domain interaction sites of human lensbetaB2-crystallin. J Biol Chem 2006;281:2624–2630.
  • Liedtke T, Schwamborn JC, Schröer U, Thanos S. Elongation of axons during regeneration involves retinal crystallin β b2 (crybb2). Mol Cell Proteomics 2007; 6:895–907.

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.