リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。

リケラボ 全国の大学リポジトリにある学位論文・教授論文を一括検索するならリケラボ論文検索大学・研究所にある論文を検索できる

リケラボ 全国の大学リポジトリにある学位論文・教授論文を一括検索するならリケラボ論文検索大学・研究所にある論文を検索できる

大学・研究所にある論文を検索できる 「Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。
リケラボ

コピーが完了しました

URLをコピーしました

論文の公開元へ論文の公開元へ
書き出し

Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population

Inaba, Akira 京都大学 DOI:10.14989/doctor.k24087

2022.05.23

概要

Inherited retinal disease (IRD) is clinically and genetically heterogeneous. Awarenessof the importance of genetic testing for IRD in the clinical setting is increasing withthe recent development of new therapeutic strategies, such as gene therapy. Here,the perception of genetic testing, including its benefits and potential challenges,among patients with IRD was investigated to establish strategies for IRD genetic testing and counseling practices that can meet the requirements of the patients in Japan.An anonymous self-administered questionnaire was distributed to 275 patients withIRD who underwent genetic testing after clinical consultation and genetic counselingto investigate the motivations for genetic testing, benefits, challenges, status of communication of results to family, and attitude to timing of genetic testing. In total, 228(82.9%) responses were analyzed. Several major motivations for genetic testing wereidentified, including gaining information on future treatment options and clarification of the inheritance pattern, among others. No association was found between thesharing of results with family members and the results of genetic testing. Moreover,according to patients who received positive results, the benefits of genetic testingincluded information on the inheritance pattern, additional information on the diagnosis, and mental preparation for the future. Even patients who received negativeor inconclusive (variant of uncertain significance) results reported certain informative and psychological benefits. Altogether, these findings suggest that provisions forgenetic testing and genetic counseling are necessary within a certain period afterclinical diagnosis and it is necessary to facilitate appropriate family communicationabout genetic testing results while paying attention to the background of family relationships. Moreover, the benefits of genetic testing can be influenced by the carefulinterpretation and information provided on the test results during genetic counselingand consultation.

論文の公開元へ

関連論文

関連論文をもっと見る

参考文献

1. Pontikos, N.; Arno, G.; Jurkute, N.; Schiff, E.; Ba-Abbad, R.; Malka, S.; Gimenez, A.; Georgiou, M.; Wright, G.; Armengol, M.; et al. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Ophthalmology 2020. [CrossRef]

2. Koyanagi, Y.; Akiyama, M.; Nishiguchi, K.M.; Momozawa, Y.; Kamatani, Y.; Takata, S.; Inai, C.; Iwasaki, Y.; Kumano, M.; Murakami, Y.; et al. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. J. Med. Genet. 2019, 56, 662–670. [CrossRef] [PubMed]

3. Aparisi, M.J.; Aller, E.; Fuster-García, C.; García-García, G.; Rodrigo, R.; Vázquez-Manrique, R.P.; Blanco-Kelly, F.; Ayuso, C.; Roux, A.F.; Jaijo, T.; et al. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J. Rare Dis. 2014, 9, 168. [CrossRef] [PubMed]

4. Mathur, P.; Yang, J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim. Biophys. Acta 2015, 1852, 406–420. [CrossRef] [PubMed]

5. Eudy, J.D.; Weston, M.D.; Yao, S.; Hoover, D.M.; Rehm, H.L.; Ma-Edmonds, M.; Yan, D.; Ahmad, I.; Cheng, J.J.; Ayuso, C.; et al. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 1998, 280, 1753–1757. [CrossRef] [PubMed]

6. Le Quesne Stabej, P.; Saihan, Z.; Rangesh, N.; Steele-Stallard, H.B.; Ambrose, J.; Coffey, A.; Emmerson, J.; Haralambous, E.; Hughes, Y.; Steel, K.P.; et al. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J. Med. Genet. 2012, 49, 27–36. [CrossRef]

7. Bonnet, C.; Riahi, Z.; Chantot-Bastaraud, S.; Smagghe, L.; Letexier, M.; Marcaillou, C.; Lefèvre, G.M.; Hardelin, J.P.; El-Amraoui, A.; Singh-Estivalet, A.; et al. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur. J. Hum. Genet. 2016, 24, 1730–1738. [CrossRef]

8. Rivolta, C.; Sweklo, E.A.; Berson, E.L.; Dryja, T.P. Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss. Am. J. Hum. Genet. 2000, 66, 1975–1978. [CrossRef]

9. Lenassi, E.; Vincent, A.; Li, Z.; Saihan, Z.; Coffey, A.J.; Steele-Stallard, H.B.; Moore, A.T.; Steel, K.P.; Luxon, L.M.; Héon, E.; et al. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur. J. Hum. Genet. 2015, 23, 1318–1327. [CrossRef]

10. Nishio, S.Y.; Usami, S. Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: Molecular epidemiology and deafness mutation spectrum of patients in Japan. Ann. Otol. Rhinol. Laryngol. 2015, 124, 49s–60s. [CrossRef]

11. van Wijk, E.; Pennings, R.J.; te Brinke, H.; Claassen, A.; Yntema, H.G.; Hoefsloot, L.H.; Cremers, F.P.; Cremers, C.W.; Kremer, H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am. J. Hum. Genet. 2004, 74, 738–744. [CrossRef]

12. Reiners, J.; Nagel-Wolfrum, K.; Jürgens, K.; Märker, T.; Wolfrum, U. Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp. Eye Res. 2006, 83, 97–119. [CrossRef] [PubMed]

13. Dona, M.; Slijkerman, R.; Lerner, K.; Broekman, S.; Wegner, J.; Howat, T.; Peters, T.; Hetterschijt, L.; Boon, N.; de Vrieze, E.; et al. Usherin defects lead to early-onset retinal dysfunction in zebrafish. Exp. Eye Res. 2018, 173, 148–159. [CrossRef] [PubMed]

14. Bonnet, C.; El-Amraoui, A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): Pathogenesis, molecular diagnosis and therapeutic approaches. Curr. Opin. Neurol. 2012, 25, 42–49. [CrossRef] [PubMed]

15. Cosgrove, D.; Zallocchi, M. Usher protein functions in hair cells and photoreceptors. Int. J. Biochem. Cell Biol. 2014, 46, 80–89. [CrossRef] [PubMed]

16. Liu, X.; Bulgakov, O.V.; Darrow, K.N.; Pawlyk, B.; Adamian, M.; Liberman, M.C.; Li, T. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc. Natl. Acad. Sci. USA 2007, 104, 4413–4418. [CrossRef]

17. Bujakowska, K.M.; Liu, Q.; Pierce, E.A. Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect. Biol. 2017, 9. [CrossRef]

18. Tsang, S.H.; Aycinena, A.R.P.; Sharma, T. Ciliopathy: Usher Syndrome. Adv. Exp. Med. Biol. 2018, 1085, 167–170. [CrossRef] [PubMed]

19. Nakanishi, H.; Ohtsubo, M.; Iwasaki, S.; Hotta, Y.; Usami, S.; Mizuta, K.; Mineta, H.; Minoshima, S. Novel USH2A mutations in Japanese Usher syndrome type 2 patients: Marked differences in the mutation spectrum between the Japanese and other populations. J. Hum. Genet. 2011, 56, 484–490. [CrossRef]

20. Zhao, Y.; Hosono, K.; Suto, K.; Ishigami, C.; Arai, Y.; Hikoya, A.; Hirami, Y.; Ohtsubo, M.; Ueno, S.; Terasaki, H.; et al. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in Caucasian patients. J. Hum. Genet. 2014, 59, 521–528. [CrossRef]

21. Hartel, B.P.; Löfgren, M.; Huygen, P.L.; Guchelaar, I.; Lo, A.N.K.N.; Sadeghi, A.M.; van Wijk, E.; Tranebjærg, L.; Kremer, H.; Kimberling, W.J.; et al. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hear. Res. 2016, 339, 60–68. [CrossRef] [PubMed]

22. Pierrache, L.H.; Hartel, B.P.; van Wijk, E.; Meester-Smoor, M.A.; Cremers, F.P.; de Baere, E.; de Zaeytijd, J.; van Schooneveld, M.J.; Cremers, C.W.; Dagnelie, G.; et al. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology 2016, 123, 1151–1160. [CrossRef] [PubMed]

23. Zhu, T.; Chen, D.F.; Wang, L.; Wu, S.; Wei, X.; Li, H.; Jin, Z.B.; Sui, R. USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. Br. J. Ophthalmol. 2020. [CrossRef] [PubMed]

24. Lee, S.Y.; Joo, K.; Oh, J.; Han, J.H.; Park, H.R.; Lee, S.; Oh, D.Y.; Woo, S.J.; Choi, B.Y. Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation. Clin. Exp. Otorhinolaryngol 2020, 13, 113–122. [CrossRef] [PubMed]

25. Sandberg, M.A.; Rosner, B.; Weigel-DiFranco, C.; McGee, T.L.; Dryja, T.P.; Berson, E.L. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Investig. Ophthalmol. Vis. Sci. 2008, 49, 5532–5539. [CrossRef]

26. Nagase, Y.; Kurata, K.; Hosono, K.; Suto, K.; Hikoya, A.; Nakanishi, H.; Mizuta, K.; Mineta, H.; Minoshima, S.; Hotta, Y. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. Semin. Ophthalmol. 2018, 33, 560–565. [CrossRef]

27. Sayo, A.; Ueno, S.; Kominami, T.; Nishida, K.; Inooka, D.; Nakanishi, A.; Yasuda, S.; Okado, S.; Takahashi, K.; Matsui, S.; et al. Longitudinal study of visual field changes determined by Humphrey Field Analyzer 10-2 in patients with Retinitis Pigmentosa. Sci. Rep. 2017, 7, 16383. [CrossRef]

28. Haque, M.N.; Kurata, K.; Hosono, K.; Ohtsubo, M.; Ohishi, K.; Sato, M.; Minoshima, S.; Hotta, Y. A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants. Hum. Genome Var. 2019, 6, 18. [CrossRef]

29. Di Iorio, V.; Orrico, A.; Esposito, G.; Melillo, P.; Rossi, S.; Sbordone, S.; Auricchio, A.; Testa, F.; Simonelli, F. ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study. Retina 2019, 39, 1399–1409. [CrossRef]

30. Astuto, L.M.; Bork, J.M.; Weston, M.D.; Askew, J.W.; Fields, R.R.; Orten, D.J.; Ohliger, S.J.; Riazuddin, S.; Morell, R.J.; Khan, S.; et al. CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am. J. Hum. Genet. 2002, 71, 262–275. [CrossRef]

31. Schultz, J.M.; Bhatti, R.; Madeo, A.C.; Turriff, A.; Muskett, J.A.; Zalewski, C.K.; King, K.A.; Ahmed, Z.M.; Riazuddin, S.; Ahmad, N.; et al. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J. Med. Genet. 2011, 48, 767–775. [CrossRef] [PubMed]

32. DuPont, M.; Jones, E.M.; Xu, M.; Chen, R. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data. Ophthalmic. Genet. 2018, 39, 291–292. [CrossRef] [PubMed]

33. Pozo, M.G.; Bravo-Gil, N.; Méndez-Vidal, C.; Montero-de-Espinosa, I.; Millán, J.M.; Dopazo, J.; Borrego, S.; Antiñolo, G. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am. J. Med. Genet. A 2015, 167, 1597–1600. [CrossRef] [PubMed]

34. Han, S.; Liu, X.; Xie, S.; Gao, M.; Liu, F.; Yu, S.; Sun, P.; Wang, C.; Archacki, S.; Lu, Z.; et al. Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. Hum. Genet. 2018, 137, 779–794. [CrossRef] [PubMed]

35. Pendse, N.D.; Lamas, V.; Pawlyk, B.S.; Maeder, M.L.; Chen, Z.Y.; Pierce, E.A.; Liu, Q. In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases. Adv. Exp. Med. Biol. 2019, 1185, 91–96. [CrossRef]

36. Zou, J.; Zheng, T.; Ren, C.; Askew, C.; Liu, X.P.; Pan, B.; Holt, J.R.; Wang, Y.; Yang, J. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum. Mol. Genet. 2014, 23, 2374–2390. [CrossRef]

37. Jouret, G.; Poirsier, C.; Spodenkiewicz, M.; Jaquin, C.; Gouy, E.; Arndt, C.; Labrousse, M.; Gaillard, D.; Doco-Fenzy, M.; Lebre, A.S. Genetics of Usher Syndrome: New Insights from a Meta-analysis. Otol. Neurotol. 2019, 40, 121–129. [CrossRef]

38. Oishi, M.; Oishi, A.; Gotoh, N.; Ogino, K.; Higasa, K.; Iida, K.; Makiyama, Y.; Morooka, S.; Matsuda, F.; Yoshimura, N. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investig. Ophthalmol. Vis. Sci. 2014, 55, 7369–7375. [CrossRef]

39. Arai, Y.; Maeda, A.; Hirami, Y.; Ishigami, C.; Kosugi, S.; Mandai, M.; Kurimoto, Y.; Takahashi, M. Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. J. Ophthalmol. 2015, 2015, 819760. [CrossRef]

40. Maeda, A.; Yoshida, A.; Kawai, K.; Arai, Y.; Akiba, R.; Inaba, A.; Takagi, S.; Fujiki, R.; Hirami, Y.; Kurimoto, Y.; et al. Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. Jpn. J. Ophthalmol. 2018, 62, 451–457. [CrossRef]

41. Richards, S.; Aziz, N.; Bale, S.; Bick, D.; Das, S.; Gastier-Foster, J.; Grody, W.W.; Hegde, M.; Lyon, E.; Spector, E.; et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015, 17, 405–424. [CrossRef] [PubMed]

42. den Dunnen, J.T.; Dalgleish, R.; Maglott, D.R.; Hart, R.K.; Greenblatt, M.S.; McGowan-Jordan, J.; Roux, A.F.; Smith, T.; Antonarakis, S.E.; Taschner, P.E. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum. Mutat. 2016, 37, 564–569. [CrossRef] [PubMed]

43. Schulze-Bonsel, K.; Feltgen, N.; Burau, H.; Hansen, L.; Bach, M. Visual acuities “hand motion” and “counting fingers” can be quantified with the freiburg visual acuity test. Investig. Ophthalmol. Vis. Sci. 2006, 47, 1236–1240. [CrossRef] [PubMed]

44. Grover, S.; Fishman, G.A.; Anderson, R.J.; Tozatti, M.S.; Heckenlively, J.R.; Weleber, R.G.; Edwards, A.O.; Brown, J., Jr. Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. Ophthalmology 1999, 106, 1780–1785. [CrossRef]

参考文献をもっと見る

全国の大学の
卒論・修論・学位論文
を
一発検索！

この論文の関連論文を見る