{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T13:43:38Z","timestamp":1776865418932,"version":"3.51.2"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To analyze the prevalence and mutation spectrum of deafness-associated genes among newborns in Anyang City.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Heel blood samples were collected from 15,771 newborns. Thirteen mutation sites across four genes associated with hereditary deafness (<jats:italic>GJB2, SLC26A4, GJB3, and 12S rRNA<\/jats:italic>) were detected using PCR combined with a flow-through hybridization technique.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 605 newborns were identified as carriers of pathogenic variants, yielding an overall carrier rate of 3.836%. Specifically, 254 newborns carried <jats:italic>GJB2<\/jats:italic> gene variants (carrier rate: 1.611%), including one homozygous variant. Heterozygous variants in the <jats:italic>SLC26A4<\/jats:italic> gene were found in 257 newborns (carrier rate: 1.630%). Heterozygous GJB3 variants were detected in 49 newborns (carrier rate: 0.311%). Homoplasmic or heteroplasmic variants in the <jats:italic>12S rRNA<\/jats:italic> gene were present in 42 newborns (carrier rate: 0.266%). Additionally, ten newborns carried heterozygous variants in two different genes concurrently. Five <jats:italic>12S rRNA<\/jats:italic> variants found in this study were not documented in public databases. The frequency of deafness gene variants in descending order was <jats:italic>SLC26A4, GJB2, GJB3,<\/jats:italic> and <jats:italic>12S rRNA<\/jats:italic>. The most common pathogenic variants identified were <jats:italic>GJB2<\/jats:italic> c.235delC and c.299_300delAT, and <jats:italic>SLC26A4<\/jats:italic> c.919-2A\u2009&amp;gt;\u2009G and c.2168A\u2009&amp;gt;\u2009G, consistent with findings from other regions in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Implementing newborn genetic screening for deafness in this region facilitates the early identification of individuals at risk for congenital, delayed-onset, and aminoglycoside-induced hearing loss, enabling timely intervention and follow-up.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1645070","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T04:18:40Z","timestamp":1760588320000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of 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