{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T23:46:47Z","timestamp":1766360807249,"version":"3.48.0"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary hearing loss, an auditory neuropathy disorder, is characterized by its high prevalence and significant impact on the quality of life of those affected. In Chinese populations, the most prevalent gap junction beta-2 (\n                    <jats:italic>GJB2<\/jats:italic>\n                    ) mutation hotspot is c.235delC. Currently available genetic tests require expensive instruments and specialized technicians or have long testing cycles and high costs, and therefore cannot meet point-of-care testing (POCT) requirements. The objective of this study was to evaluate the viability of a POCT kit. In only 42\u2009min, we successfully identified the\n                    <jats:italic>GJB2<\/jats:italic>\n                    mutation site c.235delC by integrating CRISPR-Cas nucleic acid detection with recombinase-aided amplification (RAA) and a lateral flow dipstick (LFD) method. This method has the capacity to detect low-abundance nucleic acids (as low as 10\n                    <jats:sup>2<\/jats:sup>\n                    copies\/\u03bcL) and low mutation frequency (20%), in addition to accurately distinguishing wild-type, homozygous, and heterozygous mutation. This approach was utilized to assess blood samples from a total of 31 deaf patients and 5 healthy volunteers. All results were subsequently confirmed through the implementation of Sanger sequencing. Our detection results were consistent with Sanger sequencing results. The diagnostic sensitivity and specificity were 100%. The combination of CRISPR-Cas13a and LFD may be a promising method for POCT of deafness genes.\n                  <\/jats:p>","DOI":"10.1515\/biol-2025-1064","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T20:35:37Z","timestamp":1741725337000},"source":"Crossref","is-referenced-by-count":1,"title":["Rapid detection of the\n                    <i>GJB2<\/i>\n                    c.235delC mutation based on CRISPR-Cas13a combined with lateral flow dipstick"],"prefix":"10.1515","volume":"20","author":[{"given":"Yueqin","family":"Deng","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, The Third Hospital of Changsha , Changsha 410015, Hunan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, The Third Hospital of Changsha , Changsha 410015, Hunan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, The Third Hospital of Changsha , Changsha 410015, Hunan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, The Third Hospital of Changsha , Changsha 410015, Hunan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yifang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery, The Third Hospital of Changsha , Changsha 410015, Hunan , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"2025122123391956384_j_biol-2025-1064_ref_001","doi-asserted-by":"crossref","unstructured":"Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, et al. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population. BMC Genet. 2016;17:45.","DOI":"10.1186\/s12863-016-0354-9"},{"key":"2025122123391956384_j_biol-2025-1064_ref_002","doi-asserted-by":"crossref","unstructured":"Xiong YK, Chen MH, Wang HW, Chen LJ, Huang HL, Xu LP. Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. Int J Pediatr Otorhinolaryngol. 2024;176:111777.","DOI":"10.1016\/j.ijporl.2023.111777"},{"key":"2025122123391956384_j_biol-2025-1064_ref_003","doi-asserted-by":"crossref","unstructured":"Friis IJ, Aaberg K, Edholm B. Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients. 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Carrier frequencies, trends, and geographical distribution of hearing loss variants in China: The pooled analysis of 2,161,984 newborns. Heliyon. 2024;10:e24850.","DOI":"10.1016\/j.heliyon.2024.e24850"},{"key":"2025122123391956384_j_biol-2025-1064_ref_007","doi-asserted-by":"crossref","unstructured":"Mao L, Wang YQ, An L, Zeng BP, Wang YY, Frishman D, et al. Molecular mechanisms and clinical phenotypes of GJB2 missense variants. Biology (Basel). 2023;12:505.","DOI":"10.3390\/biology12040505"},{"key":"2025122123391956384_j_biol-2025-1064_ref_008","doi-asserted-by":"crossref","unstructured":"Chen PH, Wu WJ, Zhang JF, Chen JM, Li Y, Sun LH, et al. Pathological mechanisms of connexin26-related hearing loss: Potassium recycling, ATP-calcium signaling, or energy supply? 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