![]() Yang D, Feng Y, Lu H, Chen K, Xu J, Li P, Wang T, Xia D, Wu YYang D, et al. 74 738744 10.1086/383096 PMC free article Google Scholar Wahlqvist M., Mller C., Mller K., Danermark B. USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. 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.Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing SReurink J, et al. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJLee BJH, et al. Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.Čadonič K, Sajovic J, Hawlina M, Fakin AČadonič K, et al. Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy. ![]() Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JCOrdoñez-Labastida V, et al. USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.The findings enhance the current knowledge of USH2A heterogeneity and provide valuable information for future therapies.ĭegeneration Electrophysiology Eye (Globe) Genetics Retina Stem Cells. We found that the patients with USH2 had more truncating variants and experienced an earlier decline in visual function. This study enrolled the largest cohort of Chinese patients with USH2A and identified the most prevalent USH2A variants in USH2 and RP. In addition, three pseudo-dominant pedigrees were identified carrying biallelic USH2A variants. For the patients with USH2, the age of nyctalopia onset was positively correlated with that of hearing loss (p<0.05, r=0.219). Patients harbouring biallelic truncating variants had a younger age at the initial clinical visit and symptom onset than patients with missense variants furthermore, the patients with USH2 had a younger age at the initial clinical visit and nyctalopia onset compared with the patients with RP (p<0.001). The most common variants in the RP and USH2 probands were p.Cys934Trp and p.Tyr2854_2894del, respectively, and 26.42% and 63.64% of the alleles in the RP and USH2 groups were truncating, respectively. The genotype-phenotype correlation was evaluated by statistical analyses.Ī total of 230 variants in the USH2A gene were identified, of which 90 (39.13%) were novel. Ocular examinations were performed and audiograms were recorded if hearing loss was suspected. Both personal medical history and family histories were reviewed. Targeted exome capture plus next-generation sequencing confirmed that 284 patients from 260 unrelated Chinese families carried USH2A disease-associated variants. To reveal the Usher syndrome type IIA ( USH2A) gene variant profile in a large cohort of Chinese patients with non-syndromic retinitis pigmentosa (RP) or Usher syndrome type II (USH2) and to explore the genotype-phenotype correlation.
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