208
Views
9
CrossRef citations to date
0
Altmetric
Research Report

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)

, , , , , , , , , & show all
Pages 137-144 | Received 28 Sep 2014, Accepted 15 Nov 2014, Published online: 21 Jan 2015

REFERENCES

  • Kohl S, Hamel C. Clinical utility gene card for achromatopsia – update 2013. Eur J Hum Genet 2013;21. doi:10.1038/ejhg.2013.44. http://www.nature.com/ejhg/journal/v21/n11/full/ejhg201344a.html or http://www.ncbi.nlm.nih.gov/pubmed/23486539
  • Voke-Fletcher J. Congenital rod monochromatism in a brother and sister. Mod Probl Ophthalmol 1978;19:236–237
  • Andreasson S, Tornqvist K. Electroretinograms in patients with achromatopsia. Acta Ophthalmol (Copenh) 1991;69:711–716
  • Alpern M, Falls HF, Lee GB. The enigma of typical total monochromacy. Am J Ophthalmol 1960;50:996–1012
  • Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness: a clincopathological report. Arch Ophthalmol 1960;64:685–692
  • Khan NW, Wissinger B, Kohl S, et al. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 2007;48:3864–3871
  • Kohl S, Coppieters F, Meire F, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet 2012;91:527–532
  • Sundin OH, Yang JM, Li Y, et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet 2000;25:289–293
  • Kohl S, Baumann B, Broghammer M, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000;9:2107–2116
  • Aligianis IA, Forshew T, Johnson S, et al. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 2002;39:656–660
  • Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998;19:257–259
  • Thiadens AA, den Hollander AI, Roosing S, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet 2009;85:240–247
  • Thiadens AA, Roosing S, Collin RW, et al. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology 2010;117:825–830, e821
  • Grau T, Artemyev NO, Rosenberg T, et al. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet 2011;20:719–730
  • Thiadens AA, Slingerland NW, Roosing S, et al. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009;116:1984–1989 e1981
  • Hayashi T, Kozaki K, Kitahara K, et al. Clinical heterogeneity between two Japanese siblings with congenital achromatopsia. Vis Neurosci 2004;21:413–420
  • Hayashi T, Gekka T, Goto-Omoto S, et al. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology 2005;112:2115–2122
  • Katagiri S, Yoshitake K, Akahori M, et al. Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alstrom syndrome. Mol Vis 2013;19:2393–2406
  • Katagiri S, Hayashi T, Yoshitake K, et al. Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genet 2014:1–8 . http://www.ncbi.nlm.nih.gov/pubmed/25495949
  • Katagiri S, Akahori M, Sergeev Y, et al. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. PLoS One 2014;9:e108721
  • Krieger E, Nabuurs SB, Vriend G. Homology modeling. Methods Biochem Anal 2003;44:509–523
  • Pettersen EF, Goddard TD, Huang CC, et al. UCSF Chimera – a visualization system for exploratory research and analysis. J Comput Chem 2004;25:1605–1612
  • Verriest G, Van Laethem J, Uvijls A. A new assessment of the normal ranges of the Farnsworth-Munsell 100-hue test scores. Am J Ophthalmol 1982;93:635–642
  • Mantyjarvi M. Normal test scores in the Farnsworth-Munsell 100 hue test. Doc Ophthalmol 2001;102:73–80
  • Hayashi T, Gekka T, Omoto S, et al. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G–>A) associated with intron retention. Ophthalmic Res 2005;37:214–224
  • Cideciyan AV, Hood DC, Huang Y, et al. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A 1998;95:7103–7108
  • Weitz CJ, Miyake Y, Shinzato K, et al. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet 1992;50:498–507
  • Barren B, Gakhar L, Muradov H, et al. Structural basis of phosphodiesterase 6 inhibition by the C-terminal region of the gamma-subunit. EMBO J 2009;28:3613–3622
  • Hart AW, McKie L, Morgan JE, et al. Genotype-phenotype correlation of mouse pde6b mutations. Invest Ophthalmol Vis Sci 2005;46:3443–3450
  • Thaung C, West K, Clark BJ, et al. Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 2002;11:755–767
  • Chang B, Grau T, Dangel S, et al. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A 2009;106:19581–19586
  • Granovsky AE, Natochin M, McEntaffer RL, et al. Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase. J Biol Chem 1998;273:24485–24490
  • Huang L, Zhang Q, Li S, et al. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One 2013;8:e65546
  • Thiadens AA, Somervuo V, van den Born LI, et al. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010;51:5952–5957
  • Rakoczy EP, Kiel C, McKeone R, et al. Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. J Mol Biol 2011;405:584–606
  • Baraas RC, Carroll J, Gunther KL, et al. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc Am A Opt Image Sci Vis 2007;24:1438–1447

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.