Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

References

• Bird AC. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture. Am J Ophthalmol 1995;119:543–562
   PubMed Web of Science ®Google Scholar
• Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ. Clinical findings and common symptoms in retinitis pigmentosa. Am J Ophthalmol 1988;105:504–511
   PubMed Web of Science ®Google Scholar
• Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human Mol Genet 2002;11:1219–1227
   PubMed Web of Science ®Google Scholar
• Dryja TP, Rucinski DE, Chen SH, Berson EL. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 1999;40:1859–1865
   PubMed Web of Science ®Google Scholar
• McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Nat Acad Sci USA 1995;92:3249–3253
   PubMed Web of Science ®Google Scholar
• Stryer L. Cyclic GMP cascade of vision. Ann Rev Neurosci 1986;9:87–119
   PubMed Web of Science ®Google Scholar
• Cote RH. Characteristics of photoreceptor PDE (PDE6): similarities and differences to PDE5. Int J Impotence Res 2004;16:S28–S33
   PubMed Web of Science ®Google Scholar
• Bowes C, Li T, Danciger M, et al. Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature 1990;347:677–680
   PubMed Web of Science ®Google Scholar
• Lem J, Flannery JG, Li T, et al. Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc Nat Acad Sci USA 1992;89:4422–4426
   PubMed Web of Science ®Google Scholar
• Altherr MR, Wasmuth JJ, Seldin MF, et al. Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3). Genomics 1992;12:750–754
   PubMed Web of Science ®Google Scholar
• Tsang SH, Woodruff ML, Jun L, et al. Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness. Human Mutat 2007;28:243–254
   PubMed Web of Science ®Google Scholar
• McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet 1993;4:130–134
   PubMed Web of Science ®Google Scholar
• Bayes M, Giordano M, Balcells S, et al. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Human Mutat 1995;5:228–234
   PubMed Web of Science ®Google Scholar
• Danciger M, Blaney J, Gao YQ, et al. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 1995;30:1–7
   PubMed Web of Science ®Google Scholar
• Danciger M, Heilbron V, Gao YQ, et al. A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa. Mol Vis 1996;2:10
   PubMedGoogle Scholar
• Valverde D, Solans T, Grinberg D, et al. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Human Genet 1996;97:35–38
   PubMed Web of Science ®Google Scholar
• Hmani-Aifa M, Benzina Z, Zulfiqar F, et al. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur J Human Genet 2009;17:474–482
   PubMed Web of Science ®Google Scholar
• Saga M, Mashima Y, Akeo K, et al. A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. Curr Eye Res 1998;17:332–335
   PubMed Web of Science ®Google Scholar
• Ali S, Riazuddin SA, Shahzadi A, et al. Mutations in the beta-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. Mol Vis 2011;17:1373–1380
   PubMed Web of Science ®Google Scholar
• Audo I, Tsang SH, Fu AD, et al. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol 2007;125:714–715
   PubMedGoogle Scholar
• Tsui I, Chou CL, Palmer N, et al. Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N. Curr Eye Res 2008;33:1014–1022
   PubMed Web of Science ®Google Scholar
• Gomes NL, Greenstein VC, Carlson JN, et al. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci 2009;50:3953–3959
   PubMed Web of Science ®Google Scholar
• Chen RW, Greenberg JP, Lazow MA, et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. Am J Ophthalmol 2012;153:143–154, e142
   PubMed Web of Science ®Google Scholar
• Duncker T, Tabacaru MR, Lee W, et al. Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013;54:585–591
   PubMed Web of Science ®Google Scholar
• Lee TJ, Hwang JC, Chen RW, et al. The role of fundus autofluorescence in late-onset retinitis pigmentosa (LORP) diagnosis. Ophthalmic Genet 2013. [ePub: doi: 10.3109/13816810.2013.800891]
   Google Scholar
• Weber B, Riess O, Hutchinson G, et al. Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3. Nucleic Acids Res 1991;19:6263–6268
   PubMed Web of Science ®Google Scholar
• Lisman J, Fain G. Support for the equivalent light hypothesis for RP. Nature Med 1995;1:1254–1255
   PubMed Web of Science ®Google Scholar
• Vallazza-Deschamps G, Cia D, Gong J, et al. Excessive activation of cyclic nucleotide-gated channels contributes to neuronal degeneration of photoreceptors. Eur J Neurosci 2005;22:1013–1022
   PubMed Web of Science ®Google Scholar
• Tsang SH, Tsui I, Chou CL, et al. A novel mutation and phenotypes in phosphodiesterase 6 deficiency. Am J Ophthalmol 2008;146:780–788
   PubMed Web of Science ®Google Scholar
• Jacobson SG, Sumaroka A, Aleman TS, et al. Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation. Br J Ophthalmol 2007;91:699–701
   PubMed Web of Science ®Google Scholar
• Lima LH, Cella W, Greenstein VC, et al. Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa. Retina 2009;29:1025–1031
   PubMed Web of Science ®Google Scholar
• Robson AG, Saihan Z, Jenkins SA, et al. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol 2006;90:472–479
   PubMed Web of Science ®Google Scholar
• Lima LH, Burke T, Greenstein VC, et al. Progressive constriction of the hyperautofluorescent ring in retinitis pigmentosa. Am J Ophthalmol 2012;153:718–727, e711–712
   PubMed Web of Science ®Google Scholar
• Mitamura Y, Aizawa S, Baba T, et al. Correlation between retinal sensitivity and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa. Br J Ophthalmol 2009;93:126–127
   PubMed Web of Science ®Google Scholar
• Fishman GA, Gilbert LD, Fiscella RG, et al. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol 1989;107:1445–1452
   PubMed Web of Science ®Google Scholar
• Neveling K, Collin RW, Gilissen C, et al. Next-generation genetic testing for retinitis pigmentosa. Human Mutat 2012;33:963–972
   PubMed Web of Science ®Google Scholar
• Shanks ME, Downes SM, Copley RR, et al. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Human Genet 2013;21:274–280
   PubMed Web of Science ®Google Scholar
• Audo I, Bujakowska KM, Leveillard T, et al. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Diseases 2012;7:8
   PubMed Web of Science ®Google Scholar
• Bowne SJ, Sullivan LS, Koboldt DC, et al. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci 2011;52:494–503
   PubMed Web of Science ®Google Scholar
• Avila-Fernandez A, Cantalapiedra D, Aller E, et al. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis 2010;16:2550–2558
   PubMed Web of Science ®Google Scholar