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

Figures & data

TABLE 1  Mutations previously described in the CRYBB2 gene associated with congenital cataracts.

Previous CRYBB2 gene mutations associated with congenital cataracts
Bp exchange	Aa exchange	Biologic consequence	Origin of family
c.5C>T	p.Ala2Val^Citation7	Posterior subcapsular	Chinese
c.54G>A^Citation8	p.(=)	ADCC	Indian
c.62T>A	p.Ile21Asn^Citation9	ADCC	Chinese
c.92C>T	p. Ser31Trp^Citation10	Coronary cataract	Chinese
c.177G>C	p.Trp59Cys^Citation8	Congenital zonular cataract	Indian
c.383A>T	p. Asp128Val^Citation11	Dominant ring-shaped cortical cataract	Germany
c.436G >A	p.Val146Met^Citation9	ADCC	Chinese
c.433_449del17ins17^Citation12		ADCC	Chinese
c.453G>T	p. Trp151Cys^Citation13	Central nuclear	Indian
c. 463C>T	p. Gln155Term^Citation14	Cerulean/ ADCC/ Progressive polymorphic coronary ADCC/Sutural opacity and fish tail-like branches	American/ Chinese/ Chilean/ Indian
c.477C>A	p. Tyr159Term^Citation12	ADCC	Danish
c.559G>A	p. Val187Met^Citation15	Nuclear cataract	Basotho
c.563G>A	p.Arg188His^Citation16	ADCC	Germany

FIGURE 1  An evolutionarily conserved Serine is mutated in our Italian family with ADCC. A. Electropherograms showing a heterozygous c.428C>T mutation in an affected individual compared to a wild type DNA. B. Schematic pedigree of the Italian family affected by CRYBB2-related ADCC. An asterisk shows the tested family members. C. Protein alignment shows conservation of the p.143th amino acid during evolution. The p.143th is highlighted.

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.

 PubMedGoogle Scholar

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.

 PubMed Web of Science ®Google Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar

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.

 PubMedGoogle Scholar