Clin Exp Otorhinolaryngol.  2020 May;13(2):87-88. 10.21053/ceo.2019.02117.

The Era of Precision Medicine: Reshaping Usher Syndrome

• Jung J

• KMID: 2500277
• DOI: http://doi.org/10.21053/ceo.2019.02117

Reference

1. Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012; Feb. 25(1):42–9.

2. Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983; 36(8):595–603.

3. Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, et al. Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010; Aug. 12(8):512–6.

4. Lee SY, Joo K, Oh J, Han JH, Park HR, Lee S, et al. Severe or profound sensorineural hearing loss caused by novel USH2A variants in Korea: potential genotype-phenotype correlation. Clin Exp Otorhinolaryngol. 2020; 13(2):113–22.

5. Eandi CM, Dallorto L, Spinetta R, Micieli MP, Vanzetti M, Mariottini A, et al. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. Sci Rep. 2017; Nov. 7(1):15681.

6. Hartel BP, Lofgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, 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; Sep. 339:60–8.

7. Isgrig K, Shteamer JW, Belyantseva IA, Drummond MC, Fitzgerald TS, Vijayakumar S, et al. Gene therapy restores balance and auditory functions in a mouse model of usher syndrome. Mol Ther. 2017; Mar. 25(3):780–91.

8. Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, et al. Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol. 2017; Mar. 35(3):264–72.

9. Lentz JJ, Jodelka FM, Hinrich AJ, McCaffrey KE, Farris HE, Spalitta MJ, et al. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med. 2013; Mar. 19(3):345–50.