The Effects and Treatments for Usher Syndrome: A Review
Keywords:
Deaf-blindness, molecular genetics, prevalence, treatment, usher syndrome
Abstract
Usher syndrome is defined as the rare genetic disorder that affects both vision and auditory. Although the prevalence is really low, only about 4 to 17 per 100,000 people, it is noted to cover at least 50% of deaf-blindness cases. After reviewing the molecular genetics from several papers, there are several causative genes found with the most prevalent being MYO7A, and USH2A that cause USH type 1 and 2 respectively. Furthermore, other literature has found promising treatments that may help to slow down or prevent further degeneration of the syndrome.
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References
Ahmed, Z. M., Riazuddin, S., Riazuddin, S., & Wilcox, E. R. (2003). The molecular genetics of Usher syndrome. Clinical genetics, 63(6), 431–444. https://doi.org/10.1034/j.1399-0004.2003.00109.x
Amariutei, A. E., Jeng, J. Y., Safieddine, S., & Marcotti, W. (2023). Recent advances and future challenges in gene therapy for hearing loss. Royal Society Open Science, 10(6), 230644.
Azaiez, H., Booth, K. T., Ephraim, S. S., Crone, B., Black-Ziegelbein, E. A., Marini, R. P., Shearer, A., Sloan-Heggen, C. M., Kolbe, D. L., Casavant, T. L., Schnieders, M. J., Nishimura, C., Braun, T. A., & Smith, R. D. (2018). Genomic landscape and mutational signatures of deafness-associated genes. American Journal of Human Genetics, 103(4), 484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
Brodie, K.D., Moore, A.T., Slavotinek, A.M., Meyer, A.K., Nadaraja, G.S., Conrad, D.E, Weinstein J.E., & Chan, D.K. (2020). Genetic testing leading to early identification of childhood ocular manifestations of Usher syndrome. The Laryngoscope. 131(6). https://doi.org/10.1002/lary.29193
Castiglione, A., & Möller, C. (2022). Usher syndrome. Audiology research, 12(1), 42–65. https://doi.org/10.3390/audiolres12010005
Chen, Q., Zou, J., Shen, Z., Zhang, W., & Yang, J. (2014). Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. Journal of Biological Chemistry, 289(52), 36070-36088. https://doi.org/10.1074/jbc.M114.610535
Choi, I., Beedholm, K., Dam, V. S., Bae, S.-H., Noble, D. J., Garraway, S. M., Aalkjaer, C., & Boedtkjer, E. (2021). Sodium bicarbonate cotransporter NBCn1/Slc4a7 affects locomotor activity and hearing in mice. Behavioural Brain Research, 401, 113065. https://doi.org/10.1016/j.bbr.2020.113065
Colombo, L., Maltese, P. E., Castori, M., El Shamieh, S., Zeitz, C., Audo, I., Zulian, A., Marinelli, C., Benedetti, S., Costantini, A., Bressan, S., Percio, M., Ferri, P., Abeshi, A., Bertelli, M., & Rossetti, L. (2021). Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. Investigative Ophthalmology & Visual Science, 62(2), 13. https://doi.org/10.1167/iovs.62.2.13
Davies, C., Bergman, J., Misztal, C., Ramchandran, R., Mittal, J., Bulut, E., Shah, V., Mittal, R., & Eshraghi, A. A. (2021). The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review. Journal of Clinical Medicine, 10(13), 2915. https://doi.org/10.3390/jcm10132915
Delmaghani, S., & El-Amraoui, A. (2022). The genetic and phenotypic landscapes of Usher syndrome: From disease mechanisms to a new classification. Human Genetics, 141(3-4), 709–735. https://doi.org/10.1007/s00439-022-02448-7
de Joya, E. M., Colbert, B. M., Tang, P.-C., Lam, B. L., Yang, J., Blanton, S. H., Dykxhoorn, D. M., & Liu, X. (2021). Usher syndrome in the inner ear: Etiologies and advances in gene therapy. International Journal of Molecular Sciences, 22(8), 3910. https://doi.org/10.3390/ijms22083910
Ferla, R., Dell’Aquila, F., Doria, M., Ferraiuolo, M., Noto, A., Grazioli, F., ... & Auricchio, A. (2023). Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B. Molecular Therapy-Methods & Clinical Development, 28, 396-411.N. https://doi.org/10.1016/j.omtm.2023.02.002
Galbis-Martínez, L., Blanco-Kelly, F., García-García, G., Ávila-Fernández, A., Jaijo, T., Fuster-García, C., Perea-Romero, I., Zurita-Muñoz, O., Jimenez-Rolando, B., Carreño, E., García-Sandoval, B., Millán, J. M., & Ayuso, C. (2021). Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: Implications for future clinical trials. Acta Ophthalmologica, 99(8), 922-930. https://doi.org/10.1111/aos.14795
Gao, F.-J., Wang, D.-D., Chen, F., Sun, H.-X., Hu, F.-Y., Xu, P., Li, J., Liu, W., Qi, Y.-H., Li, W., Wang, M., Zhang, S., Xu, G.-Z., Chang, Q., & Wu, J.-H. (2020). Prevalence and genetic–phenotypic characteristics of patients with ush2a mutations in a large cohort of Chinese patients with inherited retinal disease. British Journal of Ophthalmology, 105(1), 87–92. https://doi.org/10.1136/bjophthalmol-2020-315878
García-García, G., Besnard, T., Baux, D., Vaché, C., Aller, E., Malcolm, S., Claustres, M., Millan, J. M., & Roux, A. F. (2013). The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Molecular vision, 19, 367–373.
Géléoc, G. G., & El-Amraoui, A. (2020). Disease mechanisms and gene therapy for Usher syndrome. Hearing research, 394, 107932. https://doi.org/10.1016/j.heares.2020.107932
Hamel, C. (2006). Retinitis pigmentosa. Orphanet Journal of Rare Diseases, 1(1). https://doi.org/10.1186/1750-1172-1-40
Ivanchenko, M. V., Hathaway, D. M., Klein, A. J., Pan, B., Strelkova, O., De-la-Torre, P., Wu, X., Peters, C. W., Mulhall, E. M., Booth, K. T., Goldstein, C., Brower, J., Sotomayor, M., Indzhykulian, A. A., & Corey, D. P. (2023). Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nature Communications, 14(1), 2400. https://doi.org/10.1038/s41467-023-38038-y
Jiang, L., Liang, X., Li, Y., Wang, J., Zaneveld, J. E., Wang, H., Xu, S., Wang, K., Wang, B., Chen, R., & Sui, R. (2015). Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet Journal of Rare Diseases, 10, 110. https://doi.org/10.1186/s13023-015-0329-3
Jouret, G., Poirsier, C., Spodenkiewicz, M., Jaquin, C., Gouy, E., Arndt, C., Labrousse, M., Gaillard, D., Doco-Fenzy, M., & Lebre, A. S. (2019). Genetics of Usher Syndrome: New Insights from a meta-analysis. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 40(1), 121–129. https://doi.org/10.1097/MAO.0000000000002054
Kimberling, W. J., Hildebrand, M. S., Shearer, A. E., Jensen, M. L., Halder, J. A., Cohn, E. S., Weleber, R. G., Stone, E. M., & Smith, R. J. H. (2010). Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 12(8), 512–516. https://doi.org/10.1097/GIM.0b013e3181e5afb8
Koenekoop, R. K., Arriaga, M. A., Trzupek, K. M., & Lentz, J. J. (2020, October 8). Usher syndrome type I. GeneReviews®[Internet]. Retrieved December 21, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1265/
Koenekoop, R. K., Arriaga, M. A., Trzupek, K. M., & Lentz, J. J. (2020, October 22). Usher syndrome type II. GeneReviews®[Internet]. Retrieved December 21, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1341/
Krawitz, P. M., Schiska, D., Krüger, U., Appelt, S., Heinrich, V., Parkhomchuk, D., Timmermann, B., Millan, J. M., Robinson, P. N., Mundlos, S., Hecht, J., & Gross, M. (2014). Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics & Genomic Medicine, 2(5), 393–401. https://doi.org/10.1002/mgg3.92
Lahlou, G., Calvet, C., Giorgi, M., Lecomte, M. J., & Safieddine, S. (2023). Towards the clinical application of gene therapy for genetic inner ear diseases. Journal of Clinical Medicine, 12(3), 1046.
Lenarduzzi, S., Vozzi, D., Morgan, A., Rubinato, E., D'Eustacchio, A., Osland, T. M., Rossi, C., Graziano, C., Castorina, P., Ambrosetti, U., Morgutti, M., & Girotto, G. (2015). Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis. Hearing research, 320, 18–23. https://doi.org/10.1016/j.heares.2014.12.006
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., Luxon, L. M., Webster, A. R., & Bitner-Glindzicz, M. (2012). Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of Medical Genetics, 49(1), 27–36. https://doi.org/10.1136/jmedgenet-2011-100468
Long, H., Lin, H., Yan, M., Bai, Y., Tong, X., Kong, X., & Li, S. (2021). Adsorption and diffusion characteristics of CH4, CO2, and N2 in micropores and mesopores of bituminous coal: Molecular dynamics. Fuel, 292, 120268. https://doi.org/10.1016/j.fuel.2021.120268
Major, L., McClements, M. E., & MacLaren, R. E. (2023). A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery. International Journal of Molecular Sciences, 24(8), 7603. https://doi.org/10.3390/ijms24087603
Markova, T. G., Alekseeva, N. N., Belov, O. A., Chugunova, T. I., & Tsygankova, E. R. (2022). Narushenie slukha pri mutatsiyakh v genakh, otvetstvennykh za sindrom Ashera [Hearing loss due to mutations in the genes responsible for Usher syndrome]. Vestnik Otorinolaringologii, 87(1), 52–59. https://doi.org/10.17116/otorino20228701152
Mathur, P. D., & Yang, J. (2019). Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hearing Research, 375, 14–24. https://doi.org/10.1016/j.heares.2019.02.007
Mathur, P., & Yang, J. (2015). Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1852(3), 406–420. https://doi.org/10.1016/j.bbadis.2014.11.020
MedlinePlus. (2020, May 17). Usher syndrome. Retrieved December 21, 2022, from https://medlineplus.gov/genetics/condition/usher-syndrome/
Nagel-Wolfrum, K., Baasov, T., & Wolfrum, U. (2014). Therapy strategies for Usher syndrome type 1C in the retina. Retinal Degenerative Diseases, 741–747. https://doi.org/10.1007/978-1-4614-3209-8_93
Nisenbaum, E., Thielhelm, T. P., Nourbakhsh, A., Yan, D., Blanton, S. H., Shu, Y., Koehler, K. R., El-Amraoui, A., Chen, Z., Lam, B. L., & Liu, X. (2022). Review of genotype-phenotype correlations in Usher Syndrome. Ear and hearing, 43(1), 1–8. https://doi.org/10.1097/AUD.0000000000001066
O’ Neill, M. J. F. (2018, June 4). PDZ domain-containing 7; PDZD7. Omim. Retrieved December 21, 2022, from https://www.omim.org/entry/612971
Oishi, M., Oishi, A., Gotoh, N., Ogino, K., Higasa, K., Iida, K., Makiyama, Y., Morooka, S., Matsuda, F., & Yoshimura, N. (2014). Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative Ophthalmology & Visual Science, 55(11), 7369–7375. https://doi.org/10.1167/iovs.14-15458
Remjasz-Jurek, A., Clarós, P., Clarós-Pujol, A., Pujol, C., & Clarós, A. (2023). Outcomes of cochlear implantation in children with Usher syndrome: A long-term observation. European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 280(5), 2119–2132. https://doi.org/10.1007/s00405-022-07670-7
Renner, L., Ryu, J., Hennebold, J. D., Boye, S. L., Hanna, C., Burch, F., Kempton, B., Porsov, E. V., Spears, R., Burwitz, B., Lauer, A. K., Wilson, D., Pennesi, M. E., & Boye, S. (2023). Nonhuman primate model of usher syndrome type 1B: Course of retinal degeneration and initial gene therapy results. Investigative Ophthalmology & Visual Science, 64(8), 475–475.
Rijavec, N., & Grubic, V. N. (2009). Usher syndrome and psychiatric symptoms: A challenge in psychiatric management. Psychiatria Danubina, 21(1), 68–71.
Robinson, J. T., Thorvaldsdóttir, H., Turner, D., & Mesirov, J. P. (2023). igv. js: An embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV). Bioinformatics, 39(1), btac830. https://doi.org/10.1093/bioinformatics/btac830
Roy, S., Coldren, C., Karunamurthy, A., Kip, N. S., Klee, E. W., Lincoln, S. E., Leon, A., Pullambhatla, M., Temple-Smolkin, R. L., Voelkerding, K. V., Wang, C., & Carter, A. B. (2018). Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: A joint recommendation of the association for molecular pathology and the college of american pathologists. The Journal of Molecular Diagnostics, 20(1), 4–27. https://doi.org/10.1016/j.jmoldx.2017.11.003
Sethna, S., Zein, W. M., Riaz, S., Giese, A. P., Schultz, J. M., Duncan, T., Hufnagel, R. B., Brewer, C. C., Griffith, A. J., Redmond, T. M., Riazuddin, S., Friedman, T. B., & Ahmed, Z. M. (2021). Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. ELife, 10. https://doi.org/10.7554/elife.67361
Skilton, A., Boswell, E., Prince, K., Francome-Wood, P., & Moosajee, M. (2018). Overcoming barriers to the involvement of deafblind people in conversations about research: Recommendations from individuals with Usher syndrome. Research Involvement and Engagement, 4(1). https://doi.org/10.1186/s40900-018-0124-0
Souissi, A., Gibriel, A. A., & Masmoudi, S. (2022). Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges. Human genetics, 141(3-4), 583–593. https://doi.org/10.1007/s00439-021-02314-y
Stemerdink, M., García-Bohórquez, B., Schellens, R., Garcia-Garcia, G., Van Wijk, E., & Millan, J. M. (2021). Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2. Human Genetics, 141(3-4), 737–758. https://doi.org/10.1007/s00439-021-02324-w
Toms, M., Bitner-Glindzicz, M., Webster, A., & Moosajee, M. (2015). Usher syndrome: A review of the clinical phenotype, genes and therapeutic strategies. Expert Review of Ophthalmology, 10(3), 241–256. https://doi.org/10.1586/17469899.2015.1033403
Toms, M., Pagarkar, W., & Moosajee, M. (2020). Usher syndrome: Clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology, 12. https://doi.org/10.1177/2515841420952194
Tsang, S. H., Aycinena, A. R. P., & Sharma, T. (2018). Ciliopathy: Usher syndrome. Advances in Experimental Medicine and Biology, 1085, 167–170. https://doi.org/10.1007/978-3-319-95046-4_32
Vartanian, V., Krey, J. F., Chatterjee, P., Curtis, A., Six, M., Rice, S. P. M., Jones, S. M., Sampath, H., Allen, C. N., Ryals, R. C., Lloyd, R. S., & Barr-Gillespie, P. G. (2023). Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype. Genes, Brain and Behavior. https://doi.org/10.1111/gbb.12849
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018). Non-syndromic retinitis pigmentosa. Progress in Retinal and Eye Research, 66, 157–186. https://doi.org/10.1016/j.preteyeres.2018.03.005
Wilhelm, S. D. P., Kenana, R., Qiu, Y., O’Donoghue, P., & Heinemann, I. U. (2023). Towards a cure for HARS disease. Genes, 14(2), 254. https://doi.org/10.3390/genes14020254
Zaw, K., Carvalho, L. S., Aung-Htut, M. T., Fletcher, S., Wilton, S. D., Chen, F. K., & McLenachan, S. (2022). Pathogenesis and treatment of Usher syndrome type IIA. Asia-Pacific Journal of Ophthalmology, 11(4), 369–379. https://doi.org/10.1097/apo.0000000000000546
Zhang, Q. (2016). Retinitis pigmentosa: Progress and perspective. The Asia-Pacific Journal of Ophthalmology, 5(4), 265–271. https://doi.org/10.1097/APO.0000000000000227
Zhang, L., Cheng, J., Zhou, Q., Khan, Md. A., Fu, J., Duan, C., Sun, S., Lv, H., & Fu, J. (2020). Targeted next-generation sequencing identified novel compound heterozygous variants in the CDH23 gene causing usher syndrome type ID in a chinese patient. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.00422
Zhang, X., Zhang, B., Freddolino, P. L., & Zhang, Y. (2022). CR-I-TASSER: Assemble protein structures from cryo-EM density maps using deep convolutional neural networks. Nature methods, 19(2), 195–204. https://doi.org/10.1038/s41592-021-01389-9
Amariutei, A. E., Jeng, J. Y., Safieddine, S., & Marcotti, W. (2023). Recent advances and future challenges in gene therapy for hearing loss. Royal Society Open Science, 10(6), 230644.
Azaiez, H., Booth, K. T., Ephraim, S. S., Crone, B., Black-Ziegelbein, E. A., Marini, R. P., Shearer, A., Sloan-Heggen, C. M., Kolbe, D. L., Casavant, T. L., Schnieders, M. J., Nishimura, C., Braun, T. A., & Smith, R. D. (2018). Genomic landscape and mutational signatures of deafness-associated genes. American Journal of Human Genetics, 103(4), 484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
Brodie, K.D., Moore, A.T., Slavotinek, A.M., Meyer, A.K., Nadaraja, G.S., Conrad, D.E, Weinstein J.E., & Chan, D.K. (2020). Genetic testing leading to early identification of childhood ocular manifestations of Usher syndrome. The Laryngoscope. 131(6). https://doi.org/10.1002/lary.29193
Castiglione, A., & Möller, C. (2022). Usher syndrome. Audiology research, 12(1), 42–65. https://doi.org/10.3390/audiolres12010005
Chen, Q., Zou, J., Shen, Z., Zhang, W., & Yang, J. (2014). Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. Journal of Biological Chemistry, 289(52), 36070-36088. https://doi.org/10.1074/jbc.M114.610535
Choi, I., Beedholm, K., Dam, V. S., Bae, S.-H., Noble, D. J., Garraway, S. M., Aalkjaer, C., & Boedtkjer, E. (2021). Sodium bicarbonate cotransporter NBCn1/Slc4a7 affects locomotor activity and hearing in mice. Behavioural Brain Research, 401, 113065. https://doi.org/10.1016/j.bbr.2020.113065
Colombo, L., Maltese, P. E., Castori, M., El Shamieh, S., Zeitz, C., Audo, I., Zulian, A., Marinelli, C., Benedetti, S., Costantini, A., Bressan, S., Percio, M., Ferri, P., Abeshi, A., Bertelli, M., & Rossetti, L. (2021). Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. Investigative Ophthalmology & Visual Science, 62(2), 13. https://doi.org/10.1167/iovs.62.2.13
Davies, C., Bergman, J., Misztal, C., Ramchandran, R., Mittal, J., Bulut, E., Shah, V., Mittal, R., & Eshraghi, A. A. (2021). The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review. Journal of Clinical Medicine, 10(13), 2915. https://doi.org/10.3390/jcm10132915
Delmaghani, S., & El-Amraoui, A. (2022). The genetic and phenotypic landscapes of Usher syndrome: From disease mechanisms to a new classification. Human Genetics, 141(3-4), 709–735. https://doi.org/10.1007/s00439-022-02448-7
de Joya, E. M., Colbert, B. M., Tang, P.-C., Lam, B. L., Yang, J., Blanton, S. H., Dykxhoorn, D. M., & Liu, X. (2021). Usher syndrome in the inner ear: Etiologies and advances in gene therapy. International Journal of Molecular Sciences, 22(8), 3910. https://doi.org/10.3390/ijms22083910
Ferla, R., Dell’Aquila, F., Doria, M., Ferraiuolo, M., Noto, A., Grazioli, F., ... & Auricchio, A. (2023). Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B. Molecular Therapy-Methods & Clinical Development, 28, 396-411.N. https://doi.org/10.1016/j.omtm.2023.02.002
Galbis-Martínez, L., Blanco-Kelly, F., García-García, G., Ávila-Fernández, A., Jaijo, T., Fuster-García, C., Perea-Romero, I., Zurita-Muñoz, O., Jimenez-Rolando, B., Carreño, E., García-Sandoval, B., Millán, J. M., & Ayuso, C. (2021). Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: Implications for future clinical trials. Acta Ophthalmologica, 99(8), 922-930. https://doi.org/10.1111/aos.14795
Gao, F.-J., Wang, D.-D., Chen, F., Sun, H.-X., Hu, F.-Y., Xu, P., Li, J., Liu, W., Qi, Y.-H., Li, W., Wang, M., Zhang, S., Xu, G.-Z., Chang, Q., & Wu, J.-H. (2020). Prevalence and genetic–phenotypic characteristics of patients with ush2a mutations in a large cohort of Chinese patients with inherited retinal disease. British Journal of Ophthalmology, 105(1), 87–92. https://doi.org/10.1136/bjophthalmol-2020-315878
García-García, G., Besnard, T., Baux, D., Vaché, C., Aller, E., Malcolm, S., Claustres, M., Millan, J. M., & Roux, A. F. (2013). The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Molecular vision, 19, 367–373.
Géléoc, G. G., & El-Amraoui, A. (2020). Disease mechanisms and gene therapy for Usher syndrome. Hearing research, 394, 107932. https://doi.org/10.1016/j.heares.2020.107932
Hamel, C. (2006). Retinitis pigmentosa. Orphanet Journal of Rare Diseases, 1(1). https://doi.org/10.1186/1750-1172-1-40
Ivanchenko, M. V., Hathaway, D. M., Klein, A. J., Pan, B., Strelkova, O., De-la-Torre, P., Wu, X., Peters, C. W., Mulhall, E. M., Booth, K. T., Goldstein, C., Brower, J., Sotomayor, M., Indzhykulian, A. A., & Corey, D. P. (2023). Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nature Communications, 14(1), 2400. https://doi.org/10.1038/s41467-023-38038-y
Jiang, L., Liang, X., Li, Y., Wang, J., Zaneveld, J. E., Wang, H., Xu, S., Wang, K., Wang, B., Chen, R., & Sui, R. (2015). Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet Journal of Rare Diseases, 10, 110. https://doi.org/10.1186/s13023-015-0329-3
Jouret, G., Poirsier, C., Spodenkiewicz, M., Jaquin, C., Gouy, E., Arndt, C., Labrousse, M., Gaillard, D., Doco-Fenzy, M., & Lebre, A. S. (2019). Genetics of Usher Syndrome: New Insights from a meta-analysis. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 40(1), 121–129. https://doi.org/10.1097/MAO.0000000000002054
Kimberling, W. J., Hildebrand, M. S., Shearer, A. E., Jensen, M. L., Halder, J. A., Cohn, E. S., Weleber, R. G., Stone, E. M., & Smith, R. J. H. (2010). Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 12(8), 512–516. https://doi.org/10.1097/GIM.0b013e3181e5afb8
Koenekoop, R. K., Arriaga, M. A., Trzupek, K. M., & Lentz, J. J. (2020, October 8). Usher syndrome type I. GeneReviews®[Internet]. Retrieved December 21, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1265/
Koenekoop, R. K., Arriaga, M. A., Trzupek, K. M., & Lentz, J. J. (2020, October 22). Usher syndrome type II. GeneReviews®[Internet]. Retrieved December 21, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1341/
Krawitz, P. M., Schiska, D., Krüger, U., Appelt, S., Heinrich, V., Parkhomchuk, D., Timmermann, B., Millan, J. M., Robinson, P. N., Mundlos, S., Hecht, J., & Gross, M. (2014). Screening for single nucleotide variants, small indels and exon deletions with a next‐generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics & Genomic Medicine, 2(5), 393–401. https://doi.org/10.1002/mgg3.92
Lahlou, G., Calvet, C., Giorgi, M., Lecomte, M. J., & Safieddine, S. (2023). Towards the clinical application of gene therapy for genetic inner ear diseases. Journal of Clinical Medicine, 12(3), 1046.
Lenarduzzi, S., Vozzi, D., Morgan, A., Rubinato, E., D'Eustacchio, A., Osland, T. M., Rossi, C., Graziano, C., Castorina, P., Ambrosetti, U., Morgutti, M., & Girotto, G. (2015). Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis. Hearing research, 320, 18–23. https://doi.org/10.1016/j.heares.2014.12.006
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., Luxon, L. M., Webster, A. R., & Bitner-Glindzicz, M. (2012). Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of Medical Genetics, 49(1), 27–36. https://doi.org/10.1136/jmedgenet-2011-100468
Long, H., Lin, H., Yan, M., Bai, Y., Tong, X., Kong, X., & Li, S. (2021). Adsorption and diffusion characteristics of CH4, CO2, and N2 in micropores and mesopores of bituminous coal: Molecular dynamics. Fuel, 292, 120268. https://doi.org/10.1016/j.fuel.2021.120268
Major, L., McClements, M. E., & MacLaren, R. E. (2023). A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery. International Journal of Molecular Sciences, 24(8), 7603. https://doi.org/10.3390/ijms24087603
Markova, T. G., Alekseeva, N. N., Belov, O. A., Chugunova, T. I., & Tsygankova, E. R. (2022). Narushenie slukha pri mutatsiyakh v genakh, otvetstvennykh za sindrom Ashera [Hearing loss due to mutations in the genes responsible for Usher syndrome]. Vestnik Otorinolaringologii, 87(1), 52–59. https://doi.org/10.17116/otorino20228701152
Mathur, P. D., & Yang, J. (2019). Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hearing Research, 375, 14–24. https://doi.org/10.1016/j.heares.2019.02.007
Mathur, P., & Yang, J. (2015). Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1852(3), 406–420. https://doi.org/10.1016/j.bbadis.2014.11.020
MedlinePlus. (2020, May 17). Usher syndrome. Retrieved December 21, 2022, from https://medlineplus.gov/genetics/condition/usher-syndrome/
Nagel-Wolfrum, K., Baasov, T., & Wolfrum, U. (2014). Therapy strategies for Usher syndrome type 1C in the retina. Retinal Degenerative Diseases, 741–747. https://doi.org/10.1007/978-1-4614-3209-8_93
Nisenbaum, E., Thielhelm, T. P., Nourbakhsh, A., Yan, D., Blanton, S. H., Shu, Y., Koehler, K. R., El-Amraoui, A., Chen, Z., Lam, B. L., & Liu, X. (2022). Review of genotype-phenotype correlations in Usher Syndrome. Ear and hearing, 43(1), 1–8. https://doi.org/10.1097/AUD.0000000000001066
O’ Neill, M. J. F. (2018, June 4). PDZ domain-containing 7; PDZD7. Omim. Retrieved December 21, 2022, from https://www.omim.org/entry/612971
Oishi, M., Oishi, A., Gotoh, N., Ogino, K., Higasa, K., Iida, K., Makiyama, Y., Morooka, S., Matsuda, F., & Yoshimura, N. (2014). Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative Ophthalmology & Visual Science, 55(11), 7369–7375. https://doi.org/10.1167/iovs.14-15458
Remjasz-Jurek, A., Clarós, P., Clarós-Pujol, A., Pujol, C., & Clarós, A. (2023). Outcomes of cochlear implantation in children with Usher syndrome: A long-term observation. European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery, 280(5), 2119–2132. https://doi.org/10.1007/s00405-022-07670-7
Renner, L., Ryu, J., Hennebold, J. D., Boye, S. L., Hanna, C., Burch, F., Kempton, B., Porsov, E. V., Spears, R., Burwitz, B., Lauer, A. K., Wilson, D., Pennesi, M. E., & Boye, S. (2023). Nonhuman primate model of usher syndrome type 1B: Course of retinal degeneration and initial gene therapy results. Investigative Ophthalmology & Visual Science, 64(8), 475–475.
Rijavec, N., & Grubic, V. N. (2009). Usher syndrome and psychiatric symptoms: A challenge in psychiatric management. Psychiatria Danubina, 21(1), 68–71.
Robinson, J. T., Thorvaldsdóttir, H., Turner, D., & Mesirov, J. P. (2023). igv. js: An embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV). Bioinformatics, 39(1), btac830. https://doi.org/10.1093/bioinformatics/btac830
Roy, S., Coldren, C., Karunamurthy, A., Kip, N. S., Klee, E. W., Lincoln, S. E., Leon, A., Pullambhatla, M., Temple-Smolkin, R. L., Voelkerding, K. V., Wang, C., & Carter, A. B. (2018). Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: A joint recommendation of the association for molecular pathology and the college of american pathologists. The Journal of Molecular Diagnostics, 20(1), 4–27. https://doi.org/10.1016/j.jmoldx.2017.11.003
Sethna, S., Zein, W. M., Riaz, S., Giese, A. P., Schultz, J. M., Duncan, T., Hufnagel, R. B., Brewer, C. C., Griffith, A. J., Redmond, T. M., Riazuddin, S., Friedman, T. B., & Ahmed, Z. M. (2021). Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. ELife, 10. https://doi.org/10.7554/elife.67361
Skilton, A., Boswell, E., Prince, K., Francome-Wood, P., & Moosajee, M. (2018). Overcoming barriers to the involvement of deafblind people in conversations about research: Recommendations from individuals with Usher syndrome. Research Involvement and Engagement, 4(1). https://doi.org/10.1186/s40900-018-0124-0
Souissi, A., Gibriel, A. A., & Masmoudi, S. (2022). Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges. Human genetics, 141(3-4), 583–593. https://doi.org/10.1007/s00439-021-02314-y
Stemerdink, M., García-Bohórquez, B., Schellens, R., Garcia-Garcia, G., Van Wijk, E., & Millan, J. M. (2021). Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2. Human Genetics, 141(3-4), 737–758. https://doi.org/10.1007/s00439-021-02324-w
Toms, M., Bitner-Glindzicz, M., Webster, A., & Moosajee, M. (2015). Usher syndrome: A review of the clinical phenotype, genes and therapeutic strategies. Expert Review of Ophthalmology, 10(3), 241–256. https://doi.org/10.1586/17469899.2015.1033403
Toms, M., Pagarkar, W., & Moosajee, M. (2020). Usher syndrome: Clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology, 12. https://doi.org/10.1177/2515841420952194
Tsang, S. H., Aycinena, A. R. P., & Sharma, T. (2018). Ciliopathy: Usher syndrome. Advances in Experimental Medicine and Biology, 1085, 167–170. https://doi.org/10.1007/978-3-319-95046-4_32
Vartanian, V., Krey, J. F., Chatterjee, P., Curtis, A., Six, M., Rice, S. P. M., Jones, S. M., Sampath, H., Allen, C. N., Ryals, R. C., Lloyd, R. S., & Barr-Gillespie, P. G. (2023). Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype. Genes, Brain and Behavior. https://doi.org/10.1111/gbb.12849
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018). Non-syndromic retinitis pigmentosa. Progress in Retinal and Eye Research, 66, 157–186. https://doi.org/10.1016/j.preteyeres.2018.03.005
Wilhelm, S. D. P., Kenana, R., Qiu, Y., O’Donoghue, P., & Heinemann, I. U. (2023). Towards a cure for HARS disease. Genes, 14(2), 254. https://doi.org/10.3390/genes14020254
Zaw, K., Carvalho, L. S., Aung-Htut, M. T., Fletcher, S., Wilton, S. D., Chen, F. K., & McLenachan, S. (2022). Pathogenesis and treatment of Usher syndrome type IIA. Asia-Pacific Journal of Ophthalmology, 11(4), 369–379. https://doi.org/10.1097/apo.0000000000000546
Zhang, Q. (2016). Retinitis pigmentosa: Progress and perspective. The Asia-Pacific Journal of Ophthalmology, 5(4), 265–271. https://doi.org/10.1097/APO.0000000000000227
Zhang, L., Cheng, J., Zhou, Q., Khan, Md. A., Fu, J., Duan, C., Sun, S., Lv, H., & Fu, J. (2020). Targeted next-generation sequencing identified novel compound heterozygous variants in the CDH23 gene causing usher syndrome type ID in a chinese patient. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.00422
Zhang, X., Zhang, B., Freddolino, P. L., & Zhang, Y. (2022). CR-I-TASSER: Assemble protein structures from cryo-EM density maps using deep convolutional neural networks. Nature methods, 19(2), 195–204. https://doi.org/10.1038/s41592-021-01389-9
Published
2024-03-31
How to Cite
Heerlie, D., Margaretha, F., Fugaha, D., & Parikesit, A. (2024). The Effects and Treatments for Usher Syndrome: A Review. Indonesian Journal of Life Sciences, 6(01), 68-82. https://doi.org/https://doi.org/10.54250/ijls.v6i01.184
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Life Science for Health and Wellbeing
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