226
Views
3
CrossRef citations to date
0
Altmetric
Research Article

A Novel p.G112E Mutation in BFSP2 Associated with Autosomal Dominant Pulverulent Cataract with Sutural Opacities

, &
Pages 1013-1019 | Received 19 Jul 2013, Accepted 01 Feb 2014, Published online: 21 Mar 2014

References

  • Gilbert C, Foster A. Childhood blindness in the context of VISION 2020: the right to sight. Bull World Health Organ 2001;79:227–232
  • Reddy MA, Francis PJ, Berry V. Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004;49:300–315
  • Francis PJ, Berry V, Bhattacharya SS, Moore AT. Genetics of childhood cataract. J Med Genet 2000;37:481–488
  • Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998;7:471–474
  • Wang J, Ma X, Gu F, Liu NP, Hao XL, Wang KJ, et al. A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract. Chin Med J (Engl) 2007;120:820–824
  • Steele EC Jr , Kerscher S, Lyon MF, Glenister PH, Favor J, Wang J, et al. Identification of a mutation in the MP19gene, Lim2 in the cataractous mouse mutant To3. Mol Vis 1997;3:5 ;20–25
  • Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, et al. A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 2002;70:1363–1367
  • Ramachandran RD, Perumalsamy V, Hejtmancik JF. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 2007;121:475–482
  • Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008;19:134–149
  • Su D, Guo Y, Li Q, Guan L, Zhu S, Ma X. A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis 2012;18:3057–3063
  • Vanita V, Hennies HC, Singh D, Nürnberg P, Sperling K, Singh JR. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis 2006;12:1217–1222
  • Wang KJ, Li SS, Yun B, Ma WX, Jiang TG, Zhu SQ. A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family. Mol Vis 2011;17:70–77
  • FitzGerald PG, Casselman JC. Immunologic conservation of the fiber cell beaded filament. Curr Eye Res 1991;10:471–478
  • Gounari F, Merdes A, Quinlan R, Hess J, FitzGerald P, Ouzounis CA, et al. Bovine filensin possesses primary and secondary structure similarity to intermediate filament proteins. J Cell Biol 1993;121:847–854
  • Hess J, Cassleman J, FitzGerald P. cDNA analysis of the 49-kDa lens fiber cell cytoskeletal protein: a new, lens specific member of the intermediate filament family. Curr Eye Res 1993;12:77–88
  • Hess JF, Casselman JT, FitzGerald PG. Chromosomal locations of the genes for the beaded filament proteinsCP115 and CP47. Curr Eye Res 1995;14:11–18
  • Perng MD, Zhang Q, Quinlan RA. Insights into the beaded filament of the eye lens. Exp Cell Res 2007;313:2180–2188
  • Müller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, et al. Dominant cataract formation in association with a vimentin assembly disrupting mutation. Hum Mol Genet 2009;18:1052–1057
  • Hess JF, Casselman JT, FitzGerald PG. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. J Biol Chem 1996;271:6729–6735
  • Song S, Landsbury A, Dahm R, Liu Y, Zhang Q, Quinlan RA. Functions of the intermediate filament cytoskeleton in the eye lens. J Clin Invest 2009;19:1837–1848
  • Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, et al. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet 2000;66:1426–1431
  • Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. utosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000;66:1432–1436
  • Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, et al. The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. Mol Vis 2007;13:2023–2029
  • Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. Mol Vis 2004;10:890–900
  • Zhang L, Gao L, Li Z, Qin W, Gao W, Cui X, et al. Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. Mol Vis 2006;2:1626–1631
  • Ma X, Li FF, Wang SZ, Gao C, Zhang M, Zhu SQ. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. Mol Vis 2008;14:1906–1911
  • Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med 2011;13:978–981
  • Sandilands A, Prescott AR, Wegener A, Zoltoski RK, Hutcheson AM, Masaki S, et al. Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract. Exp Eye Res 2003;76:385–391
  • Sandilands A, Wang X, Hutcheson AM, James J, Prescott AR, Wegener A, et al. Bfsp2 mutation found in mouse 129 strains causes the loss of CP49 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Exp Eye Res 2004;78:109–123
  • Alizadeh A, Clark J, Seeberger T, Hess J, Blankenship T, Fitz Gerald PG. Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Invest Ophthalmol Vis Sci 2004;45:884–891
  • Simirskii VN, Lee RS, Wawrousek EF, Duncan MK. Inbred FVB/N mice are mutant at the cp49/Bfsp2 locus and lack beaded filament proteins in the lens. Invest Ophthalmol Vis Sci 2006;47:4931–4934
  • Yoon KH, Blankenship T, Shibata B, Fitzgerald PG. Resisting the effects of aging: a function for the fiber cell beaded filament. Invest Ophthalmol Vis Sci 2008;49:1030–1036

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:

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:

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.