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Given the increasing utilisation of genetic testing pre-conceptually, prenatally, and neonatally, it is crucial to understand genotype-phenotype correlations. This study evaluated the nature and frequency of <jats:italic>GJB<\/jats:italic>2 variants in an Australian paediatric population with varying degrees of SNHL ascertained through newborn hearing screening. Audiograms from individuals with <jats:italic>GJB2<\/jats:italic> variants and\/or a <jats:italic>GJB6<\/jats:italic> deletion (<jats:italic>GJB6<\/jats:italic>-D13S11830) were retrospectively reviewed (<jats:italic>n<\/jats:italic>\u2009=\u2009127). Two-thirds were biallelic (homozygous\/compound heterozygous) for pathogenic\/likely pathogenic variants of <jats:italic>GJB2<\/jats:italic> and\/or <jats:italic>GJB6<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200980). The most frequent variant was c.109\u2009G\u2009&gt;\u2009A, followed by c.35delG and c.101\u2009T\u2009&gt;\u2009C. Compared to biallelic carriage of other <jats:italic>GJB2<\/jats:italic> variants, c.109\u2009G\u2009&gt;\u2009A positive individuals (homozygous\/compound heterozygous) were more likely to have mild HL at their initial and latest audiograms (<jats:italic>p<\/jats:italic>\u2009=\u20090.0004). Biallelic carriage of c.35delG was associated with moderately-severe or greater SNHL at both initial and latest audiograms (<jats:italic>p<\/jats:italic>\u2009=\u20090.007). The c.101\u2009T\u2009&gt;\u2009C variant presented with milder SNHL and U-shaped audiograms (<jats:italic>p<\/jats:italic>\u2009=\u20090.02). In this agnostically identified cohort, mild SNHL predominated in <jats:italic>GJB2\/GJB6<\/jats:italic> carriers in contrast to previous studies targeting individuals with significant loss. Consequently, c.109\u2009G\u2009&gt;\u2009A, associated with milder phenotypes, was the most frequent. This study provides valuable data to support prognostic confidence in genetic counselling.<\/jats:p>","DOI":"10.1038\/s41431-024-01584-0","type":"journal-article","created":{"date-parts":[[2024,3,15]],"date-time":"2024-03-15T04:51:05Z","timestamp":1710478265000},"page":"208-219","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates"],"prefix":"10.1038","volume":"33","author":[{"given":"Rebecca","family":"Kriukelis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5828-315X","authenticated-orcid":false,"given":"Michael T.","family":"Gabbett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael","family":"Beswick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0059-5732","authenticated-orcid":false,"given":"Aideen M.","family":"McInerney-Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlie","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1948-5872","authenticated-orcid":false,"given":"Karen","family":"Liddle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,15]]},"reference":[{"key":"1584_CR1","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/s00439-021-02335-7","volume":"141","author":"SL Rouse","year":"2022","unstructured":"Rouse SL, Florentine MM, Taketa E, Chan DK. 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