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Case Reports

Modification of the PROM1 disease phenotype by a mutation in ABCA4

, , , , , , , , & show all
Pages 369-375 | Received 13 Aug 2019, Accepted 22 Aug 2019, Published online: 06 Sep 2019

References

  • Meyer KJ, Anderson MG. Genetic modifiers as relevant biological variables of eye disorders. Hum Mol Genet. 2017;26(R1):R58–R67. doi:10.1093/hmg/ddx180.
  • Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Garanto A, Elmelik, D., Qamar, R., Lugtenberg, D., van Den Born, LI., et al. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. Genome Res. 2018;28(1):100–10. doi:10.1101/gr.226621.117.
  • McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach, M. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015;130(1):1–12. doi:10.1007/s10633-014-9473-7.
  • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164. doi:10.1093/nar/gkq603.
  • Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, Bernstein, JA., Bejerano, G. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48(12):1581–86. doi:10.1038/ng.3703.
  • Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877–85. doi:10.1016/j.ajhg.2016.08.016.
  • Ionita-Laza I, McCallum K, Xu B, Buxbaum JD. A spectral approach integrating functional genomic annotations for coding and noncoding variants. Nat Genet. 2016;48(2):214–20. doi:10.1038/ng.3477.
  • Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–15. doi:10.1038/ng.2892.
  • Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2015;31(5):761–63. doi:10.1093/bioinformatics/btu703.
  • Cideciyan AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam, AH., Bennett, J., Stone, EM., Jacobson, SG. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci. 2005;46(12):4739–46. doi:10.1167/iovs.05-0805.
  • Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard, B, Baird, L, Stauffer, D, Peiffer, A, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15(3):236–46. doi:10.1038/ng0397-236.
  • Sparrow JR, Gregory-Roberts E, Yamamoto K, Blonska A, Ghosh SK, Ueda K, Zhou, J. The bisretinoids of retinal pigment epithelium. Prog Retin Eye Res. 2012;31(2):121–35. doi:10.1016/j.preteyeres.2011.12.001.
  • Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield, VC. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet. 1998;20(4):328–29. doi:10.1038/3798.
  • Rivera A, White K, Stohr H, Steiner K, Hemmrich N, Grimm T, Jurklies, B, Lorenz, B, Scholl, HP., Apfelstedt-Sylla, E, et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet. 2000;67(4):800–13. doi:10.1086/303090.
  • Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet. 2000;67(2):487–91. doi:10.1086/303018.
  • Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, et al. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet. 2016;48(2):134–43. doi:10.1038/ng.3448.
  • Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer, A, Zabriskie, N A., Li, Y, Hutchinson, A, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277(5333):1805–07. doi:10.1126/science.277.5333.1805.
  • Fritsche LG, Fleckenstein M, Fiebig BS, Schmitz-Valckenberg S, Bindewald-Wittich A, Keilhauer CN, Renner AB, Mackensen F, Mößner A, Pauleikhoff D, et al. A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53(4):2112–18. doi:10.1167/iovs.11-8785.
  • Noupuu K, Lee W, Zernant J, Greenstein VC, Tsang S, Allikmets R. Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy. Graefes Arch Clin Exp Ophthalmol. 2016;254(5):865–72. doi:10.1007/s00417-015-3142-8.
  • Shroyer NF, Lewis RA, Lupski JR. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001;131(6):761–66. doi:10.1016/s0002-9394(01)00838-8.
  • Grassmann F, Bergholz R, Mandl J, Jagle H, Ruether K, Weber BH. Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC Ophthalmol. 2015;15:18. doi:10.1186/s12886-015-0008-0.
  • Zacchigna S, Oh H, Wilsch-Brauninger M, Missol-Kolka E, Jaszai J, Jansen S, Tanimoto N, Tonagel F, Seeliger M, Huttner WB, et al. Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration. J Neurosci. 2009;29(7):2297–308. doi:10.1523/JNEUROSCI.2034-08.2009.
  • Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, et al. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008;118(8):2908–16. doi:10.1172/JCI35891.
  • Sparrow JR, Blonska A, Flynn E, Duncker T, Greenberg JP, Secondi R, Ueda, K., Delori, F C. Quantitative fundus autofluorescence in mice: correlation with HPLC quantitation of RPE lipofuscin and measurement of retina outer nuclear layer thickness. Invest Ophthalmol Vis Sci. 2013;54(4):2812–20. doi:10.1167/iovs.12-11490.
  • Wu L, Nagasaki T, Sparrow JR. Photoreceptor cell degeneration in Abcr (-/-) mice. Adv Exp Med Biol. 2010;664:533–39. doi:10.1007/978-1-4419-1399-9_61.
  • Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH. Delayed dark-adaptation and lipofuscin accumulation in abcr± mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2001;42(8):1685–90.
  • Duncker T, Stein GE, Lee W, Tsang SH, Zernant J, Bearelly S, Hood, D C., Greenstein, V C., Delori, F C., Allikmets, R., et al. Quantitative fundus autofluorescence and optical coherence tomography in ABCA4 carriers. Invest Ophthalmol Vis Sci. 2015;56(12):7274–85. doi:10.1167/iovs.15-17371.

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