{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe STRC gene encodes the protein stereocilin, which is essential for normal auditory function. Stereocilin is localized to the hair bundles of outer hair cells in the cochlea where it facilitates the mechanical coupling of these cells with the overlying tectorial membrane. This coupling is critical for cochlear amplification, fine frequency selectivity, and efficient sound transduction. Multiple genetic studies have demonstrated that mutations, copy number variations, and deletions in STRC are a major cause of autosomal recessive non‐syndromic sensorineural hearing loss—particularly in mild-to-moderate cases after exclusion of the common GJB2 mutations."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDetection and characterization of STRC mutations are complicated by the presence of a nearly identical pseudogene, necessitating advanced diagnostic techniques, such as targeted next-generation sequencing with specialized bioinformatic filters and copy number assays. These refined methods have not only improved mutation detection but also revealed cases of contiguous gene deletions encompassing STRC and neighboring loci (for example, CATSPER2, whose loss can lead to male infertility). Moreover, emerging reports indicate that stereocilin is present in the vestibular system—specifically within the kinocilia of the otolithic membranes—suggesting a role in balance and spatial orientation, as evidenced by associated vestibular dysfunction in some patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional investigations have demonstrated that loss of stereocilin disrupts the precise mechanical interplay required for effective outer hair cell function, resulting in diminished cochlear amplification and impaired frequency discrimination. Such deficits are reflected in poorer spectral resolution and degraded speech-in-noise perception among affected individuals, underscoring the clinical impact of DFNB16 hearing loss. Together, these insights not only elucidate the critical molecular function of STRC in inner ear mechanotransduction but also pave the way for improved genetic diagnosis, counseling, and personalized therapeutic strategies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Lauren J Francey, Laura K Conlin, Hanna E Kadesch, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Otol Rhinol Laryngol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0003489416661345"}], "href": "https://doi.org/10.1177/0003489416661345"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27469136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27469136"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Pavlina Plevova, Martina Paprskarova, Petra Tvrda, et al. 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