Progress in research on pathogenic genes of retinitis pigmentosa_Chinese Journal of Ocular Fundus Diseases

Authors：

Gao Fengjuan , Zhang Shenghai , Hu Fangyuan , Xu Ping , Wu Jihong ,  Xu Gezhi

Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai 200031, China;

Corresponding author：

Xu Gezhi, Email: drxugezhi@163.com

Keywords：

Retinitis pigmentosa/genetics; Genes; Mutation; Review

DOI：

10.3760/cma.j.issn.1005-1015.2018.06.019

Video：

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Retinitis pigmentosa (RP) is a group of hereditary blinding fundus diseases caused by abnormalities in photoreceptors of the retina. RP is highly heterogeneous in hereditary and cdinical phenotypes. It can be divided into simple type RP and syndrome type RP. The main inheritance patterns are autosomal dominant, autosomal recessive inheritance and X-linked inheritance. With the popularization and clinical application of gene sequencing technology, more and more disease-causing genes have been discovered, and these genes are mainly expressed in photoreceptor cells and retinal pigment epithelial cell. ln-depth understanding of RP pathogenic genes not only provides a theoretical basis for RP diagnosis and genetic counseling, but also provides guidance for RP gene therapy.

Citation： Gao Fengjuan, Zhang Shenghai, Hu Fangyuan, Xu Ping, Wu Jihong, Xu Gezhi. Progress in research on pathogenic genes of retinitis pigmentosa. Chinese Journal of Ocular Fundus Diseases, 2018, 34(6): 605-608. doi: 10.3760/cma.j.issn.1005-1015.2018.06.019 Copy

1.	Xu L, Hu L, Ma K, et al. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: the Beijing Eye Study[J]. Eur J Ophthalmol, 2006, 16(6): 865-866.
2.	Zhang Q. Retinitis pigmentosa: progress and perspective[J]. Asia Pac J Ophthalmol (Phila), 2016, 5(4): 265-271. DOI: 10.1097/APO.0000000000000227.
3.	Arai Y, Maeda A, Hirami Y, et al. Retinitis pigmentosa with EYS mutations is the most prevalent inherited retinal dystrophy in Japanese populations[J/OL]. J Ophthalmol, 2015, 2015: 819760[2015-06-16]. http://dx.doi.org/10.1155/2015/819760. DOI: 10.1155/2015/819760.
4.	Iwanami M, Oshikawa M, Nishida T, et al. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2012, 53(2): 1033-1040. DOI: 10.1167/iovs.11-9048.
5.	Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa[J]. Nat Genet, 2000, 25(4): 462-466. DOI: 10.1038/78182.
6.	Veltel S, Wittinghofer A. RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?[J]. Expert Opin Ther Targets, 2009, 13(10): 1239-1251. DOI: 10.1517/14728220903225016.
7.	Zhao GY, Hu DN, Xia HX, et al. Chinese family with retinitis pigmentosa[J]. Ophthalmic Genet, 1995, 16(2): 75-76.
8.	Mansergh FC, Millington-Ward S, Kennan A, et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene[J]. Am J Hum Genet, 1999, 64(4): 971-985.
9.	Dryja TP, Hahn LB, Kajiwara K, et al. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 1997, 38(10): 1972-1982.
10.	Daiger SP, Sullivan LS, Gire AI, et al. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)[J]. Adv Exp Med Biol, 2008, 613: 203-209. DOI: 10.1007/978-0-387-74904-4_23.
11.	Nakanishi H, Ohtsubo M, Iwasaki S, et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1[J]. J Hum Genet, 2010, 55(12): 796-800. DOI: 10.1038/jhg.2010.115.
12.	Jaijo T, Aller E, Beneyto M, et al. MYO7A mutation screening in Usher syndrome type Ⅰ patients from diverse origins[J]. J Med Genet, 2007, 44(3): 71. DOI: 10.1136/jmg.2006.045377.
13.	Maubaret C, Griffoin JM, Arnaud B, et al. Novel mutations in MYO7A and USH2A in Usher syndrome[J]. Ophthalmic Genet, 2005, 26(1): 25-29. DOI: 10.1080/13816810590918118.
14.	Beneyto MM, Cuevas JM, Millan JM, et al. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type Ⅱ (USH2)[J]. Ophthalmic Genet, 2000, 21(2): 123-128.
15.	Dreyer B, Tranebjaerg L, Rosenberg T, et al. Identification of novel USH2A mutations: implications for the structure of USH2A protein[J]. Eur J Hum Genet, 2000, 8(7): 500-506. DOI: 10.1038/sj.ejhg.5200491.
16.	Aller E, Jaijo T, Oltra S, et al. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability[J]. Clinical Genet, 2004, 66(6): 525-529. DOI: 10.1111/j.1399-0004.2004.00352.x.
17.	Plantinga RF, Pennings RJ, Huygen PL, et al. Visual impairment in Finnish Usher syndrome type Ⅲ[J]. Acta Ophthalmol Scand, 2006, 84(1): 36-41. DOI: 10.1111/j.1600-0420.2005.00507.x.
18.	Suspitsin EN, Imyanitov EN. Bardet-Biedl syndrome[J]. Mol Syndromol, 2016, 7(2): 62-71. DOI: 10.1159/000445491.
19.	Forsythe E, Beales PL. Bardet-Biedl syndrome[J]. Eur J Hum Genet, 2013, 21(1): 8-13. DOI: 10.1038/ejhg.2012.115.
20.	Castro-Sanchez S, Alvarez-Satta M, Valverde D. Bardet-Biedl syndrome: a rare genetic disease[J]. J Pediatr Genet, 2013, 2(2): 77-83. DOI: 10.3233/PGE-13051.
21.	Kamme C, Mayer AK, Strom TM, et al. Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome[J]. Acta Ophthalmol, 2017, 95(3): 250-252. DOI: 10.1111/aos.13293.
22.	Venturini G, Rose AM, Shah AZ, et al. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance[J/OL]. PLoS Genet, 2012; 8(11): 1003040. [2012-11-08]. https://doi.org/10.1371/journal.pgen.1003040. DOI: 10.1111/aos.13293.

1. Xu L, Hu L, Ma K, et al. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: the Beijing Eye Study[J]. Eur J Ophthalmol, 2006, 16(6): 865-866.
2. Zhang Q. Retinitis pigmentosa: progress and perspective[J]. Asia Pac J Ophthalmol (Phila), 2016, 5(4): 265-271. DOI: 10.1097/APO.0000000000000227.
3. Arai Y, Maeda A, Hirami Y, et al. Retinitis pigmentosa with EYS mutations is the most prevalent inherited retinal dystrophy in Japanese populations[J/OL]. J Ophthalmol, 2015, 2015: 819760[2015-06-16]. http://dx.doi.org/10.1155/2015/819760. DOI: 10.1155/2015/819760.
4. Iwanami M, Oshikawa M, Nishida T, et al. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2012, 53(2): 1033-1040. DOI: 10.1167/iovs.11-9048.
5. Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa[J]. Nat Genet, 2000, 25(4): 462-466. DOI: 10.1038/78182.
6. Veltel S, Wittinghofer A. RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?[J]. Expert Opin Ther Targets, 2009, 13(10): 1239-1251. DOI: 10.1517/14728220903225016.
7. Zhao GY, Hu DN, Xia HX, et al. Chinese family with retinitis pigmentosa[J]. Ophthalmic Genet, 1995, 16(2): 75-76.
8. Mansergh FC, Millington-Ward S, Kennan A, et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene[J]. Am J Hum Genet, 1999, 64(4): 971-985.
9. Dryja TP, Hahn LB, Kajiwara K, et al. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 1997, 38(10): 1972-1982.
10. Daiger SP, Sullivan LS, Gire AI, et al. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)[J]. Adv Exp Med Biol, 2008, 613: 203-209. DOI: 10.1007/978-0-387-74904-4_23.
11. Nakanishi H, Ohtsubo M, Iwasaki S, et al. Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1[J]. J Hum Genet, 2010, 55(12): 796-800. DOI: 10.1038/jhg.2010.115.
12. Jaijo T, Aller E, Beneyto M, et al. MYO7A mutation screening in Usher syndrome type Ⅰ patients from diverse origins[J]. J Med Genet, 2007, 44(3): 71. DOI: 10.1136/jmg.2006.045377.
13. Maubaret C, Griffoin JM, Arnaud B, et al. Novel mutations in MYO7A and USH2A in Usher syndrome[J]. Ophthalmic Genet, 2005, 26(1): 25-29. DOI: 10.1080/13816810590918118.
14. Beneyto MM, Cuevas JM, Millan JM, et al. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type Ⅱ (USH2)[J]. Ophthalmic Genet, 2000, 21(2): 123-128.
15. Dreyer B, Tranebjaerg L, Rosenberg T, et al. Identification of novel USH2A mutations: implications for the structure of USH2A protein[J]. Eur J Hum Genet, 2000, 8(7): 500-506. DOI: 10.1038/sj.ejhg.5200491.
16. Aller E, Jaijo T, Oltra S, et al. Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability[J]. Clinical Genet, 2004, 66(6): 525-529. DOI: 10.1111/j.1399-0004.2004.00352.x.
17. Plantinga RF, Pennings RJ, Huygen PL, et al. Visual impairment in Finnish Usher syndrome type Ⅲ[J]. Acta Ophthalmol Scand, 2006, 84(1): 36-41. DOI: 10.1111/j.1600-0420.2005.00507.x.
18. Suspitsin EN, Imyanitov EN. Bardet-Biedl syndrome[J]. Mol Syndromol, 2016, 7(2): 62-71. DOI: 10.1159/000445491.
19. Forsythe E, Beales PL. Bardet-Biedl syndrome[J]. Eur J Hum Genet, 2013, 21(1): 8-13. DOI: 10.1038/ejhg.2012.115.
20. Castro-Sanchez S, Alvarez-Satta M, Valverde D. Bardet-Biedl syndrome: a rare genetic disease[J]. J Pediatr Genet, 2013, 2(2): 77-83. DOI: 10.3233/PGE-13051.
21. Kamme C, Mayer AK, Strom TM, et al. Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome[J]. Acta Ophthalmol, 2017, 95(3): 250-252. DOI: 10.1111/aos.13293.
22. Venturini G, Rose AM, Shah AZ, et al. CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance[J/OL]. PLoS Genet, 2012; 8(11): 1003040. [2012-11-08]. https://doi.org/10.1371/journal.pgen.1003040. DOI: 10.1111/aos.13293.

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