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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. Bonnet C, et al. Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27. Eur J Hum Genet. 2016. PMID: 27460420 Free PMC article.
A total of 10 causal genes, 6 for USH1, 3 for USH2, and 1 for USH3, and an USH2 modifier gene, have been identified. A robust molecular diagnosis is required not only to improve genetic counseling, but also to advance gene therapy in USH patients. ...
A total of 10 causal genes, 6 for USH1, 3 for USH2, and 1 for USH3, and an USH2 modifier gene, have been identified. A robust molecul …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A. Delmaghani S, et al. Hum Genet. 2022 Apr;141(3-4):709-735. doi: 10.1007/s00439-022-02448-7. Epub 2022 Mar 30. Hum Genet. 2022. PMID: 35353227 Free PMC article. Review.
Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN for USH2, and CLRN1 for USH3. Based on the co-occurrence of hearing and vision deficits, the list of USH genes has been exten …
Pathogenic variants of nine USH genes have been initially reported: MYO7A, USH1C, PCDH15, CDH23, and USH1G for USH1, USH2A, ADGRV1, and WHRN …
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases. Usher Syndrome 3 (USH3) …
Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), norm …
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H, Huang X, Xing Y, Shen Y. Dan H, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1131. doi: 10.1002/mgg3.1131. Epub 2020 Jan 20. Mol Genet Genomic Med. 2020. PMID: 31960602 Free PMC article.
We found that 43 families (56.6%) had disease-causing variants in 15 genes, including RHO, PRPF31, USH2A, CLRN1, BBS2, CYP4V2, EYS, RPE65, CNGA1, CNGB1, PDE6B, MERTK, RP1, RP2, and RPGR; moreover, 12 families (15.8%) had only one heterozygous variant in seven autosomal rec …
We found that 43 families (56.6%) had disease-causing variants in 15 genes, including RHO, PRPF31, USH2A, CLRN1, BBS2, CYP4V2, EYS, R …
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III.
Geng R, Omar A, Gopal SR, Chen DH, Stepanyan R, Basch ML, Dinculescu A, Furness DN, Saperstein D, Hauswirth W, Lustig LR, Alagramam KN. Geng R, et al. Sci Rep. 2017 Oct 18;7(1):13480. doi: 10.1038/s41598-017-13620-9. Sci Rep. 2017. PMID: 29044151 Free PMC article.
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). ...Early onset profound hearing loss in KO mice and lack of information about the cochlear cell type that requir …
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin- …
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.
Priglinger CS, Gerhardt MJ, Priglinger SG, Schaumberger M, Neuhann TM, Bolz HJ, Mehraein Y, Rudolph G. Priglinger CS, et al. Int J Mol Sci. 2024 Nov 14;25(22):12259. doi: 10.3390/ijms252212259. Int J Mol Sci. 2024. PMID: 39596324 Free PMC article.
Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CEP290 (5.6% each), CDH23, BBS1, and BBS10 (3.7% each) being the most frequent in preschoolers, and USH2A (11.7%), BBS10 (7.8%), CEP290, CDHR23, CLRN1, and ICQB1 …
Ciliopathies were the most common syndromic IRDs (preschool 37%; schoolchildren 45.1%), with variants in USH2A, CEP290 (5.6% each), CDH23, B …
lncRNA CLRN1-AS1 reduces adhesion ability of human trophoblasts via CXCL10/CXCL11.
Zhang Y, Chen Y, Zhang L, Wu Y, Feng Y, Ma F. Zhang Y, et al. Placenta. 2023 Sep 7;140:47-59. doi: 10.1016/j.placenta.2023.07.003. Epub 2023 Jul 16. Placenta. 2023. PMID: 37531749
RESULTS: High throughput sequencing technology was used to identify 438 differentially expressed mRNAs and 41 lncRNAs. The three lncRNAs, namely CLRN1-AS1, USP27X-AS1, and AC104809.4, were screened by the mRNA-lncRNA network. In vitro implantation model suggested that all …
RESULTS: High throughput sequencing technology was used to identify 438 differentially expressed mRNAs and 41 lncRNAs. The three lncRNAs, na …
Clarin-1 expression in adult mouse and human retina highlights a role of Muller glia in Usher syndrome.
Xu L, Bolch SN, Santiago CP, Dyka FM, Akil O, Lobanova ES, Wang Y, Martemyanov KA, Hauswirth WW, Smith WC, Handa JT, Blackshaw S, Ash JD, Dinculescu A. Xu L, et al. J Pathol. 2020 Feb;250(2):195-204. doi: 10.1002/path.5360. Epub 2019 Dec 4. J Pathol. 2020. PMID: 31625146 Free PMC article.
Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin-1 (CLRN1), leading to combined progressive hearing loss and retinal degeneration. ...We generated a novel knock-in mouse with a hemagglut …
Usher syndrome type 3 (USH3) is an autosomal recessively inherited disorder caused by mutations in the gene clarin-1 ( …
Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.
Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A. Dulon D, et al. J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9. J Clin Invest. 2018. PMID: 29985171 Free PMC article.
Clarin-1, a tetraspan-like membrane protein defective in Usher syndrome type IIIA (USH3A), is essential for hair bundle morphogenesis in auditory hair cells. ...Our results identify clarin-1 as a key organizer of IHC ribbon synapses, and suggest …
Clarin-1, a tetraspan-like membrane protein defective in Usher syndrome type IIIA (USH3A), is essential for hair bundle …
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA, Lanting CP, Haer-Wigman L, Yntema HG, Mylanus EAM, Huinck WJ, Pennings RJE. Fehrmann MLA, et al. Ear Hear. 2024 Nov-Dec 01;45(6):1542-1553. doi: 10.1097/AUD.0000000000001544. Epub 2024 Jul 11. Ear Hear. 2024. PMID: 38987893 Free PMC article.
Better outcomes were associated with younger age at implantation and higher preimplantation speech perception scores. USH3-subjects (N = 7 ears) achieved a mean postimplantation phoneme score of 71% (IQR = 45 to 91). ...In comparison with USH2, predicting outcomes in US …
Better outcomes were associated with younger age at implantation and higher preimplantation speech perception scores. USH3-subjects ( …
41 results