423
Views
13
CrossRef citations to date
0
Altmetric
Festschrift: Case Report

Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies

, , , &
Pages 51-60 | Received 29 Sep 2016, Accepted 02 Dec 2016, Published online: 17 Jan 2017

References

  • Revesz T, Fletcher S, Al-Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992;29(9):673–675.
  • Kajtar P, Mehes K. Bilateral coats retinopathy associated with aplastic anemia and mild dyskeratotic signs. Am J Med Genet 1994;49(4):373–377.
  • McElnea EM, van der Spek N, Smith O, et al. Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. J Am Acad Pediat Ophthalmol Strabismus 2013;17(6):634–636.
  • Riyaz A, Riyaz N, Jayakrishnan MP, et al. Revesz syndrome. Indian J Pediat 2007;74(9):862–863.
  • Scheinfeld MH, Lui YW, Kolb EA, et al. The neuroradiological findings in a case of Revesz syndrome. Pediat Radiol 2007;37(11):1166–1170.
  • Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2013;6(3):327–337.
  • Gleeson M, O’Marcaigh A, Cotter M, et al. Retinal vasculopathy in autosomal dominant dyskeratosis congenita. Br J Haematol 2012;159(5):498.
  • Walne AJ, Vulliamy T, Beswick R, et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008;112(9):3594–3600.
  • Savage SA, Giri N, Baerlocher GM, et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008;82(2):501–509.
  • Gramatges MM, Bertuch AA. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res 2013;162(6):353–363.
  • Townsley DM, Dumitriu B, Young NS. Bone marrow failure and the telomeropathies. Blood 2014;124(18):2775–2783.
  • Sasa GS, Ribes Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet 2012;81(5):470–478.
  • Jones M, Bisht K, Savage SA, et al. The shelterin complex and hematopoiesis. J Clin Invest 2016;126(5):1621–1629.
  • Frank AK, Tran DC, Qu RW, et al. The shelterin TIN2 subunit mediates recruitment of telomerase to telomeres. PLoS Genet 2015;11(7):e1005410.
  • Negron D, Colon-Castillo L, Morales-Melecio I, Correa-Rivas M. Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child. Pediat Dev Pathol 2008;11(2):148–151.
  • Simon AJ, Lev A, Zhang Y, et al. Mutations in STN1 cause coats plus syndrome and are associated with genomic and telomeric defects. J Exp Med 2016;213(8):1429–1440.
  • Stanley SE, Gable DL, Wagner CL, et al. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. Sci Transl Med 2016;8( 351): 351ra107.
  • Mason JO, Yunker JJ, Nixon PA, et al. Proliferative retinopathy as a complication of dyskeratosis congenita. Retinal Cases Brief Rep 2009;3(3):259–262.
  • Vaz-Pereira S, Pacheco PA, Gandhi S, et al. Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita. Eur J Ophthalmol 2013;23(5):772–775.
  • Allingham MJ. Bilateral proliferative retinopathy associated with Hoyeraal-Hreidarsson syndrome, a severe form of dyskeratosis congenita. Ophthalmic Surg Lasers Imaging Retina 2016;47(4):366–368.
  • Sharma A, Myers K, Ye Zhan, D’Orazio J. Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudativeretinopathy. Pediat Blood Cancer 2014;61(12):2302–2304.
  • Gayatri NA, Hughes MI, Wynn RF. Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification, and progressive neurological impairment. Eur J Paediat Neurol 2002;6(2):125–128.
  • Finzi A, Morara M, Pichi F, et al. Vitreous hemorrhage secondary to retinal vasculopathy in a patient with dyskeratosis congenita. Int Ophthalmol 2014;34(4):923–926.
  • Keller RB, Gagne KE, Usmani GN, et al. CTC mutations in a patient with dyskeratosis congenita. Pediat Blood Cancer 2012;59(2):311–314.
  • Tsilou ET, Giri N, Weinstein S, et al. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 2010;117(3):615–622.
  • Crow YJ, McMenamin J, Haenggeli CA, et al. Coats’ plus: a progressive familial syndrome of bilateral Coats’ disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument. Neuropediatrics 2004;35(1):10–19.
  • Anderson BH, Kasher PR, Mayer J, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012;44(3):338–342.
  • Johnson CA, Hatfield M, Pulido JS. Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. Ophthalmic Genet 2009;30:181–184.
  • Teixeira LF. Bilateral retinal vasculopathy in a patient with dyskeratosis congenita. Arch Ophthalmol 2008;126:134–135.
  • Takai H, Jenkinson E, Kabir S, et al. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in coats plus. Genes Dev 2015;30(7):812–826.
  • Van der Maarel SM, Tawil R, Tapscott SJ. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. Trends Mol Med 2011;17(5):252–258.
  • Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy: a general association with genetic and therapeutic implications. Brain 1987;110:631–648.
  • Wu WC, Drenser K, Trese M, et al. Retinal phenotype-genotype correlation of pediatric patients expressing mutation sin the Norrie disease gene. Arch Ophthalmol 2007;125(2):225–230.
  • Chow CC, Kiernan DF, Chau FY, et al. Laser photocoagulation at birth prevents blindness in Norrie’s disease diagnosed using amniocentesis. Ophthalmology 2010;117(12):2402–2406.
  • Kierman DF, Blair MP, Shapiro MJ, et al. In utero diagnosis of Norrie disease and early laser preserves visual acuity. Arch Ophthalmol 2010;128(10):1382.
  • Warburg M. Norrie’s disease: a new hereditary bilateral pseudotumor of the retina. Arch Ophthalmol 1961;29:757–772.
  • Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, et al. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR. Mol Vis 2004;11:705–712.
  • Swinney CC, Han DP, Karth PA. Incontintia pigmenti: a comprehensive review and update. Ophthalmic Surg Lasers Imaging Retina 2015;46(6):650–657.
  • Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-KB activation and is a cause of incontinentia pigmenti. Nature 2000;405(6785):466–472.
  • Oster SF, Scott McLeod D, et al. Retinal vascular abnormalities in NEMO-deficient mice: an animal model for incontinentia pigmenti. Exp Eye Res 2009;88(3):613–616.
  • Khincha P, Bertuch A, Agarwal S, et al. Pulmonary arteriovenous malformations: an uncharacterized phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J 2016, Oct 20 [Epub ahead of print]. doi:10.1183/13993003.01640-2016
  • Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993;5(2):180–183.
  • Robitaille J, MacDonald MLE, Kaykas A, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 2002;32(2):326–330.
  • Jiao X, Ventruto V, Trese MT, et al. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5. Am J Hum Genet 2004;75(5):878–84.
  • Toomes C, Bottomley HM, Jackson RM, et al. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004;74(4):721–730.
  • Nikopoulos K, Gilissen C, Hoischen A, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet 2010;86(2):240–247.
  • Poulter JA, Ali M, Gilmour DF, et al. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet 2010;86(2):248–253.
  • Ye X, Wang Y, Nathans J. The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. Trends Mol Med 2010;16(9):417–425.
  • Park J-I, Venteicher AS, Hong JY, et al. Telomerase modulates Wnt signaling by association with target gene chromatin. Nat Genet 2009;460(7251):66–72.
  • Diala I, Wagner N, Magdinier F, et al. Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway. EMBO Rep 2013;14(4):356–363.
  • Hoffmeyer K, Raggioli A, Rudloff S, et al. Wnt/β-catenin signaling regulates telomerase in stem cells and cancer cells. Science 2012;336(6088):1549–1554.
  • Gu B-W, Apicella M, Mills J, et al. Impaired telomere maintenance and decreased canonical WNT signaling but normal ribosome biogenesis in induced pluripotent stem cells from X-linked dyskeratosis congenita patients. PLoS One 2015;10(5):e0127414.
  • Woo D-H, Chen Q, Yang T-LB, et al. Enhancing a Wnt-telomere feedback loop restores intestinal stem cell function in a human organotypic model of dyskeratosis congenita. Cell Stem Cell 2015;19(3):397–405.

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.