42
Views
0
CrossRef citations to date
0
Altmetric
Key Paper Evaluation

Utility and efficacy of TGFBI mutational analysis for disease detection

&
Pages 569-573 | Published online: 09 Jan 2014

References

  • Yoo SY, Kim DK, Park TJ, Kim EK, Tamiya E, Lee SY. Detection of the most common corneal dystrophies caused by BIGH3 gene point mutations using a multispot gold-capped nanoparticle array chip. Anal. Chem.82(4), 1349–1357 (2009).
  • Munier FL, Korvatska E, Djemai A et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet.15(3), 247–251 (1997).
  • Skonier J, Neubauer M, Madisen L, Bennett K, Plowman GD, Purchio AF. cDNA cloning and sequence analysis of βIG-H3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β. DNA Cell Biol.11(7), 511–522 (1992).
  • Stone EM, Mathers WD, Rosenwasser GO et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat. Genet.6(1), 47–51 (1994).
  • Stark T, Hersh PS, Kenyon KR. Corneal dysgeneses, dystrophies, and degenerations. In: Principles and Practice of Ophthalmology: Clinical Practice. Albert DM, Jakobiec FA (Eds). WB Saunders Company, PA, USA, 13–77 (1994).
  • Munier FL, Frueh BE, Othenin-Girard P et al. BIGH3 mutation spectrum in corneal dystrophies. Invest. Ophthalmol. Vis. Sci.43(4), 949–954 (2002).
  • Klintworth GK. Corneal dystrophies. Orphanet. J. Rare Dis.4, 7 (2009).
  • Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL. A novel phenotype–genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman’s layer. Mol. Vis.14, 1503–1512 (2008).
  • Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, Suarez-Sanchez R. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. Mol. Vis.12, 331–335 (2006).
  • Weiss JS, Moller HU, Lisch W et al. The IC3D classification of the corneal dystrophies. Cornea27(Suppl. 2), S1–S83 (2008).
  • Tanhehco TY, Eifrig DE Jr, Schwab IR, Rapuano CJ, Klintworth GK. Two cases of Reis–Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch. Ophthalmol.124(4), 589–593 (2006).
  • Zhao XC, Nakamura H, Subramanyam S et al. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman’s layer corneal dystrophy. Ophthalmology114(11), e39–e46 (2007).
  • Banning CS, Kim WC, Randleman JB, Kim EK, Stulting RD. Exacerbation of Avellino corneal dystrophy after LASIK in North America. Cornea25(4), 482–484 (2006).
  • Jun RM, Tchah H, Kim TI et al. Avellino corneal dystrophy after LASIK. Ophthalmology111(3), 463–468 (2004).
  • Park SH, Mok J, Joo CK, Kim MS. Heterozygous Avellino corneal dystrophy 9 years after photorefractive keratectomy: natural or laser-induced accelerated course? Cornea28(4), 465–467 (2009).
  • Wan XH, Lee HC, Stulting RD et al. Exacerbation of Avellino corneal dystrophy after laser in situ keratomileusis. Cornea21(2), 223–226 (2002).
  • Williams KA, Coster DJ. Gene therapy for diseases of the cornea – a review. Clin. Experiment Ophthalmol.218(3), 140–147 (2009).
  • Lee ES, Kim EK. Surgical do’s and don’ts of corneal dystrophies. Curr. Opin. Ophthalmol.14(4), 186–191 (2003).
  • Vajpayee RB, Tyagi J, Sharma N, Kumar N, Jhanji V, Titiyal JS. Deep anterior lamellar keratoplasty by big-bubble technique for treatment corneal stromal opacities. Am. J. Ophthalmol.143(6), 954–957 (2007).
  • Montgomery JL, Sanford LN, Wittwer CT. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev. Mol. Diagn.10(2), 219–240 (2010).
  • Vossen RH, Aten E, Roos A, den Dunnen JT. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum. Mutat.30(6), 860–866 (2009).
  • Yoo SY, Kim TI, Lee SY et al. Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the βIGH3 gene. Br. J. Ophthalmol.91(6), 722–727 (2007).
  • Zernant J, Kulm M, Dharmaraj S et al. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest. Ophthalmol. Vis. Sci.46(9), 3052–3059 (2005).
  • Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet. Test.4(1), 1–7 (2000).
  • Paliwal P, Gupta J, Tandon R, Sharma A, Vajpayee RB. Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India. Arch. Ophthalmol.127(10), 1373–1376 (2009).
  • Poloschek CM, Bach M, Lagreze WA et al. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest. Ophthalmol. Vis. Sci. DOI: 10.1167/iovs.09-4655 (2010) (Epub ahead of print).
  • Vincent AL, Billingsley G, Buys Y et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet.70(2), 448–460 (2002).
  • Burdon KP, Coster DJ, Charlesworth JC et al. Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci. Hum. Genet.124(4), 379–386 (2008).
  • Katsanis N. The oligogenic properties of Bardet–Biedl syndrome. Hum. Mol. Genet.13(Spec. 1), R65–R71 (2004).
  • Yamada N, Kawamoto K, Morishige N et al. Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies. Mol. Vis.15, 974–979 (2009).
  • Wain LV, Armour JA, Tobin MD. Genomic copy number variation, human health, and disease. Lancet374(9686), 340–350 (2009).
  • Bae JS, Cheong HS, Chun JY et al. Identification of genome-wide copy number variations and a family-based association study of avellino corneal dystrophy. Ophthalmology DOI: 10.1016/j.ophtha.2009.11.021 (2010) (Epub ahead of print).

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.