{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe USH2A gene encodes usherin, an extraordinarily large extracellular matrix protein that is expressed predominantly in retinal photoreceptors and developing cochlear hair cells. In photoreceptors, usherin localizes to a distinct apical inner segment domain that envelops the connecting cilium (often termed the periciliary ridge complex), where it likely plays a structural and/or signaling role essential for long‐term photoreceptor maintenance. In cochlear hair cells, usherin appears transiently during postnatal development, suggesting its involvement in the proper assembly of the mechanosensitive hair bundle. Its presence in specialized mechanoreceptive structures (for example, Meissner’s corpuscles) further hints at a broader function in translating mechanical stimuli across different sensory modalities."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nUSH2A gives rise to multiple protein isoforms owing to alternative splicing; the shorter isoform and a larger variant containing additional domains – including laminin G modules, numerous fibronectin type III repeats, a transmembrane segment, and a C‐terminal PDZ–binding motif – together expand its functional repertoire. These structural features enable usherin to be tethered to the plasma membrane while extending a large extracellular domain that can interact with other proteins. Indeed, usherin is an integral component of a dynamic quaternary “USH2 complex” that also includes GPR98, whirlin, and PDZD7. This multiprotein assembly at ciliary or stereociliary link regions is essential for maintaining normal photoreceptor organization and hair cell bundle architecture, and its integrity can be compromised by not only coding mutations but also deep intronic changes that induce abnormal splicing."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "30"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in USH2A represent the most common genetic cause of Usher syndrome type II and also underlie a notable fraction of non‐syndromic retinitis pigmentosa, giving rise to a wide spectrum of phenotypes. The mutational landscape is highly heterogeneous and includes frameshift, nonsense, missense, and splice‐site variants; in some cases, the combination of alleles determines whether hearing is affected alongside vision. Comprehensive genetic screening—incorporating deep intronic analyses, copy‐number evaluation, and recognition of founder mutations in specific populations—has dramatically enhanced diagnostic accuracy and provided clues toward genotype–phenotype correlations. These insights are critical to the development of targeted therapeutic strategies, such as antisense oligonucleotide–mediated splicing correction, that aim to prevent or mitigate the progressive sensory deterioration characteristic of the disorder."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "31", "end_ref": "44"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaoqing Liu, Oleg V Bulgakov, Keith N Darrow, et al. 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