Yang D, Feng Y, Lu H, Chen K, Xu J, Li P, Wang T, Xia D, Wu YYang D, et al. USH2A mutations also account for a large number of isolated autosomal recessive RP (arRP) cases. Usher Syndrome Type I - GeneReviews® - NCBI Bookshelf (nih.gov) Type II Moderate to severe hearing loss present at birth (congenital) Downward-sloping, sensorineural hearing loss Vision loss is due to retinitis pigmentosa (RP) beginning with night-blindness after age 10 with loss of peripheral vision tunnel vision. USH is clinically and genetically heterogeneous, and the most prevalent causative gene is USH2A. USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. Usher syndrome (USH) is a syndromic IRD characterized by retinitis pigmentosa (RP) and hearing loss.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.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |