![]() 451īaux, Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients, Hum Mutat, № 28, с. 1795ĭreyer, Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II, Hum Mutat, № 29, с. Hartong, Retinitis pigmentosa, Lancet, № 368, с. ![]() 738Īdato, Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells, Hum Mol Genet, № 14, с. Van Wijk, 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, Am J Hum Genet, № 74, с. 1527Įudy, Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa, Science, № 280, с. 86Ĭampochiaro, Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial, J Clin Invest, № 130, с. Karali, Clinical and genetic analysis of a European cohort with pericentral retinitis pigmentosa, Int J Mol Sci, № 21, с. Rivolta, Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss, Am J Hum Genet, № 66, с. 4413īaux, Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots, Hum Mutat, № 35, с. Liu, Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells, Proc Natl Acad Sci, № 104, с. Hmani-Aifa, Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family, Eur J Hum Genet EJHG, № 17, с. Hmani, A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2, Eur J Hum Genet, № 7, с. Stemerdink, Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2, Hum Genet, № 141, с. Wafa, Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome, Clin Genet, № 99, с. Yang, Current understanding of Usher syndrome type II, Front Biosci, № 17, с. Jouret, Genetics of Usher syndrome: new insights from a meta-analysis, Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol, № 40, с. ![]() ![]() Kimberling, Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children, Genet Med, № 12, с. We review animal cell-derived and patient cell-derived models currently used in USH2A research and conclude with an overview of potential treatment strategies currently in preclinical development and clinical trials.īoughman, Usher syndrome: definition and estimate of prevalence from two high-risk populations, J Chronic Dis, № 36, с. The role of these proteins in the inner ear and retina and their impact on the pathogenesis of USH2A is discussed. In this review, we first provide an overview of the molecular biology of the USH2A gene and its protein isoforms, which include a transmembrane protein (TM usherin) and an extracellular protein (EC usherin). Although hearing aids or cochlear implants can provide some mitigation of hearing deficits, there are currently no treatments aimed at preventing or restoring vision loss in USH2A patients. USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of life and variable vestibular involvement. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mutations in the USH2A gene and accounts for around half of all USH cases. Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. ![]()
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