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In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2.
We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 (zeige CEP290 ELISA Kits) gene, and one duplication in RIMS2 (zeige RIMS2 ELISA Kits) gene) in total four families, at a detection rate of 8% (4/50).
Most patients with USH2A-associated RP have severe visual impairment by age 50. However, those with Usher syndrome type IIa have an earlier decline of visual function and a higher cumulative risk of visual impairment than those without nonsyndromic RP.
Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G (zeige USH1G ELISA Kits) severely affect formation of the SANS (zeige USH1G ELISA Kits)/ush2a/whirlin (zeige DFNB31 ELISA Kits) complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS (zeige USH1G ELISA Kits) scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes.
seven out of 27 families, displaying mutations in the ABCA4 (zeige ABCA4 ELISA Kits), RP1 (zeige STK19 ELISA Kits), RP2 and USH2A genes, could be genetically or clinically reclassified. These results demonstrate the potential of our panel-based NGS strategy in RP diagnosis
USH2A gene sequencing identifies several new deep intronic mutations responsible for Usher syndrome type 2A.
Usher syndrome 2 is caused by USH2A exon deletions in a small fraction of danish patients.
One novel and two known mutations in the USH2A gene were identified, and were further confirmed by direct sequencing and cosegregation analysis.
The presence of at least one 'retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing.
Ten variants in the MYO7A (zeige MYO7A ELISA Kits) gene and 34 variants in the USH2A gene were detected in Italian patients with Usher syndrome at a high detection rate.
Conservation of usherin is seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences.
Binding to fibronectin (zeige FN1 ELISA Kits) occurs at the LE domain of usherin.
In mouse inner ears usherin is present at the base of the differentiating stereocilia, which make up the mechanosensitive hair bundles receptive to sound
Whrn connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
usherin in photoreceptors is tethered via its C terminus to the plasma membrane and its large extracellular domain projects into the periciliary matrix, where they may interact with the connecting cilium to fulfill important structural or signaling roles
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.
Usher syndrome 2A (autosomal recessive, mild)
, novel Fibronectin type III domain containing protein
, usher syndrome type IIa protein
, usher syndrome type-2A protein
, Usher syndrome 2A (autosomal recessive, mild) homolog
, usher syndrome type IIa protein homolog
, usher syndrome type-2A protein homolog
, Usher syndrome 2A homolog