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Research Reports

Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1

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Pages 15-22 | Received 24 Jun 2020, Accepted 26 Sep 2020, Published online: 14 Oct 2020

References

  • Fahim AT, Daiger SP, Weleber RG. Nonsyndromic retinitis pigmentosa overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A., editors. GeneReviews((R)). Seattle (WA); 1993–2020. Availablefrom: https://www.ncbi.nlm.nih.gov/books/NBK1417/.
  • Biel M, Michalakis S.Function and dysfunction of CNG channels: insights from channelopathies and mouse models. Mol Neurobiol. 2007;35(3):266–77.doi:10.1007/s12035-007-0025-y.
  • Kaupp UB, Seifert R.Cyclic nucleotide-gated ion channels. Physiol Rev. 2002;82(3):769–824.doi:10.1152/physrev.00008.2002.
  • Zheng J, Trudeau MC, Zagotta WN.Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit. Neuron. 2002;36(5):891–96.doi:10.1016/S0896-6273(02)01099-1.
  • Peng C, Rich ED, Varnum MD.Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron. 2004;42(3):401–10.doi:10.1016/S0896-6273(04)00225-9.
  • Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia. Ophthalmic Genet 2016;37:68–75.
  • Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg M, Navarro-Gomez D, Pierce E. The genetic basis of pericentral retinitis pigmentosa-a form of mild retinitis pigmentosa. Genes (Basel). 2017;8:10.
  • Jin X, Qu LH, Hou BK, Xu HW, Meng XH, Pang CP, Yin Z-Q Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family. Biosci Rep. 2016;36(1):e00289. doi:10.1042/BSR20150131.
  • Paloma E, Martinez-Mir A, Garcia-Sandoval B, Ayuso C, Vilageliu L, Gonzalez-Duarte R Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet. 2002;39(10):E66. doi:10.1136/jmg.39.10.e66.
  • Wang M, Gan D, Huang X, Xu G. Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing. BMC Ophthalmol. 2016;16:101. doi:10.1186/s12886-016-0281-6.
  • Wiik AC, Ropstad EO, Ekesten B, Karlstam L, Wade CM, Lingaas F.Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. Anim Genet. 2015;46(5):515–21.doi:10.1111/age.12323.
  • Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol Vis. 2004;10:884–89.
  • Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 1995;4 Spec No:1739–43. doi:10.1093/hmg/4.suppl_1.1739.
  • Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M.Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet. 2001;108(4):328–34.doi:10.1007/s004390100496.
  • Bocquet B, Marzouka NA, Hebrard M, Manes G, Senechal A, Meunier I Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Mol Vis. 2013;19:2487–500.
  • Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, et al. Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. Ophthalmic Genet. 2016;37(3):357–59. doi:10.3109/13816810.2015.1087578.
  • Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest Ophthalmol Vis Sci. 2004;45(12):4433–39. doi:10.1167/iovs.04-0544.
  • Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM. A large animal model for CNGB1 autosomal recessive retinitis pigmentosa. PloS One. 2013;8(8):e72229. doi:10.1371/journal.pone.0072229.
  • Charbel Issa P, Reuter P, Kuhlewein L, Birtel J, Gliem M, Tropitzsch A. Olfactory dysfunction in patients with CNGB1-associated retinitis pigmentosa. JAMA Ophthalmol. 2018;136(7):761–69. doi:10.1001/jamaophthalmol.2018.1621.
  • Karstensen HG, Mang Y, Fark T, Hummel T, Tommerup N.The first mutation in CNGA2 in two brothers with anosmia. Clin Genet. 2015;88(3):293–96.doi:10.1111/cge.12491.
  • Sailani MR, Jingga I, MirMazlomi SH, Bitarafan F, Bernstein JA, Snyder MP, Garshasbi M. Isolated congenital anosmia and CNGA2 mutation. Sci Rep. 2017;7(1):2667. doi:10.1038/s41598-017-02947-y.
  • 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.
  • Doty RL, Shaman P, Dann M.Development of the University of Pennsylvania smell identification test: a standardized microencapsulated test of olfactory function. Physiol Behav. 1984;32(3):489–502.doi:10.1016/0031-9384(84)90269-5.
  • Doty RL, Shaman P, Kimmelman CP, Dann MS.University of Pennsylvania smell identification test: a rapid quantitative olfactory function test for the clinic. Laryngoscope. 1984;94(2 Pt 1):176–78.doi:10.1288/00005537-198402000-00004.
  • Doty RL. Influence of age and age-related diseases on olfactory function. Ann N Y Acad Sci. 1989;561:76–86.
  • Doty RL, Frye RE, Agrawal U.Internal consistency reliability of the fractionated and whole University of Pennsylvania smell identification test. Percept Psychophys. 1989;45(5):381–84.doi:10.3758/BF03210709.
  • Daiger SP, Sullivan LS, Bowne SJ.Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84(2):132–41.doi:10.1111/cge.12203.
  • Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R.Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Mol Vis. 2017;23:470–81.
  • Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, et al. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014;133(3):331–45. doi:10.1007/s00439-013-1381-5.
  • Ellingford JM, Barton S, Bhaskar S, O’Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, et al. Molecular findings from 537 individuals with inherited retinal disease. J Med Genet. 2016;53(11):761–67. doi:10.1136/jmedgenet-2016-103837.
  • Hull S, Attanasio M, Arno G, Carss K, Robson AG, Thompson DA.Clinical characterization of CNGB1-related autosomal recessive retinitis pigmentosa. JAMA Ophthalmol. 2017;135(2):137–44. doi:10.1001/jamaophthalmol.2016.5213.
  • Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE.Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J Med Genet. 2011;48(3):145–51.doi:10.1136/jmg.2010.083568.
  • Lingao MD, Ganesh A, Karthikeyan AS, Al Zuhaibi S, Al-Hosni A, Al Khayat A, Capasso J, Trumler AA, Stroh E, Al Shekaili H, et al. Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet. 2016;37(4):377–83. doi:10.3109/13816810.2015.1101775.
  • Ge Z, Bowles K, Goetz K, Scholl HP, Wang F, Wang X, Xu S, Wang K, Wang H, Chen R, et al. NGS-based molecular diagnosis of 105 eyeGENE((R)) probands with retinitis pigmentosa. Sci Rep. 2015;5:18287.
  • Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 2020;581:434–43.
  • Colville CA, Molday RS.Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel. J Biol Chem. 1996;271(51):32968–74.doi:10.1074/jbc.271.51.32968.
  • Leinders-Zufall T, Rosenboom H, Barnstable CJ, Shepherd GM, Zufall F.A calcium-permeable cGMP-activated cation conductance in hippocampal neurons. Neuroreport. 1995;6(13):1761–65.doi:10.1097/00001756-199509000-00013.
  • Michalakis S, Zong X, Becirovic E, Hammelmann V, Wein T, Wanner KT, Biel M, et al. The glutamic acid-rich protein is a gating inhibitor of cyclic nucleotide-gated channels. J Neurosci. 2011;31(1):133–41. doi:10.1523/JNEUROSCI.4735-10.2011.
  • Trudeau MC, Zagotta WN.An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness. Neuron. 2002;34(2):197–207.doi:10.1016/S0896-6273(02)00647-5.
  • Pierce EA.Pathways to photoreceptor cell death in inherited retinal degenerations. BioEssays. 2001;23(7):605–18.doi:10.1002/bies.1086.
  • Michalakis S, Reisert J, Geiger H, Wetzel C, Zong X, Bradley J, Spehr M, Hüttl S, Gerstner A, Pfeifer A, et al. Loss of CNGB1 protein leads to olfactory dysfunction and subciliary cyclic nucleotide-gated channel trapping. J Biol Chem. 2006;281(46):35156–66. doi:10.1074/jbc.M606409200.
  • Frye RE, Schwartz BS, Doty RL.Dose-related effects of cigarette smoking on olfactory function. JAMA. 1990;263(9):1233–36.doi:10.1001/jama.1990.03440090067028.
  • Meng X, Deng Y, Dai Z, Meng ZCOVID-19.and anosmia: A review based on up-to-date knowledge. Am J Otolaryngol. 2020;41(5):102581.doi:10.1016/j.amjoto.2020.102581.