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Mutation Report

Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa

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Pages 64-69 | Received 02 Jan 2013, Accepted 21 May 2013, Published online: 08 Jul 2013

References

  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006;368:1795–1809
  • Xu L, Hu L, Ma K, et al. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study. Eur J Ophthalmol 2006;16:865–866
  • Berson EL. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 1993;34:1659–1676
  • Berson EL. Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect. Trans Am Ophthalmol Soc 1990;88:355–388
  • Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 2007;125:151–158
  • Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 2002;11:1219–1227
  • Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet 2010;11:273–284
  • Gandra M, Anandula V, Authiappan V, et al. Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Mol Vis 2008;14:1105–1113
  • Orth U, Samanns C, Gusseck H, et al. [Autosomal dominant hereditary retinopathia pigmentosa with genetic heterogeneity]. Fortschr Ophthalmol 1991;88:455–459
  • Al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994;3:351–354
  • Audo I, Bujakowska K, Mohand-Saïd S, et al. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet 2010;11:145
  • Sullivan LS, Bowne SJ, Birch DG. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006;47:3052–3064
  • Sato H, Wada Y, Itabashi T, et al. Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Am J Ophthalmol 2005;140:537–540
  • Lim KP, Yip SP, Cheung SC, et al. Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Arch Ophthalmol 2009;127:784–790
  • Makarov EM, Makarova OV, Urlaub H, et al. Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome. Science 2002;298:2205–2208
  • Wilkie SE, Vaclavik V, Wu H, et al. Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis 2008;14:683–690
  • Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev 2003;17:419–437
  • Lu SS, Zhao C, Cui Y, et al. Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa. Chin J Ophthalmol (Chin) 2005;41:305–311
  • Wang L, Ribaudo M, Zhao K, et al. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A 2003;121A:235–239
  • Xia K, Zheng D, Pan Q, et al. A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis 2004;10:361–365
  • Liu JY, Dai X, Sheng J, et al. Identification and functional characterization of a novel splicing mutation in RP gene PRPF31. Biochem Biophys Res Commun 2008;367:420–426
  • Xu F, Sui R, Liang X, et al. Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients. Mol Vis 2012;18:3021–3028
  • Massof RW, Finkelstein D. Two forms of autosomal dominant primary retinitis pigmentosa. Doc Ophthalmol 1981;51:289–346
  • van Lith-Verhoeven JJ, van der Velde-Visser SD, Sohocki MM, et al. Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). Ophthalmic Genet 2002;23:1–12
  • Al-Maghtheh M, Vithana E, Tarttelin E, et al. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Am J Hum Genet 1996;59:864–871
  • A1-Maghtheh M, Vithana E, Talttelin E, et al. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RPll)and association with a unique bimodal expressivity phenotype. Am J Hum Genet 1996;59:864–871
  • Makarov EM, Makarova OV, Urlaub H, et al. Small nuclear ribonucleoprotein remodeling during catalytic activation of the spliceosome. Science 2002;298:2205–2208
  • Lyness AL, Ernst W, Quinlan MP, et al. A clinical, psychophysical and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol 1985;69:326–339
  • Rio Frio T, McGee TL, Wade NM, et al. A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Hum Mutat 2009;30:1340–1347
  • Abu-Safieh L, Vithana EN, Mantel I, et al. A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis 2006;12:384–388
  • Bujakowska K, Maubaret C, Chakarova CF, et al. Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci 2009;50:5927–5933

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