{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:12:49Z","timestamp":1753891969043,"version":"3.41.2"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T00:00:00Z","timestamp":1745366400000},"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>This study aims to analyze a genetic family with the <jats:italic>GJB2<\/jats:italic> gene c.551G&amp;gt;A (p.R184Q) variant, exploring the relationship between its genotype and clinical phenotype, and summarizing the inheritance pattern and clinical features associated with this locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Detailed medical history collection and physical examinations were conducted for the proband and their family members. Audiological assessments and genetic sequencing analyses were performed on some members. Additionally, a review of existing literature concerning GJB2 c.551G&amp;gt;A (p.R184Q) was conducted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband, along with their father and paternal grandmother, carried the heterozygous mutation GJB2 c.551G&amp;gt;A, all exhibiting moderate to profound bilateral prelingual sensorineural deafness. Notably, the proband also presented symptoms of skin dryness and nail abnormalities characteristic of syndromic hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The GJB2 c.551G&amp;gt;A mutation not only leads to severe hearing loss but may also be associated with syndromic hearing loss, expanding our understanding of the clinical spectrum associated with this variant.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1514369","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T05:22:44Z","timestamp":1745385764000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in 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