{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:42Z","timestamp":1753869702273,"version":"3.41.2"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p><jats:italic>GJB2<\/jats:italic> and <jats:italic>GJB6<\/jats:italic> variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities. <jats:italic>GJB6<\/jats:italic> variations are classically associated with two distinct conditions: non\u2010syndromic hearing loss and hidrotic ectodermal dysplasia, type Clouston, the latter typically not involving deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Whole genome sequencing (WGS) was used to find genetic variants after clinical features of a 13\u2010year\u2010old female patient were recorded.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this report, we describe the association of congenital hearing loss and ectodermal anomalies (palmoplantar keratoderma, knuckle pads, and nail dystrophy) in a female with the ENST00000647029.1 (<jats:italic>GJB6<\/jats:italic>): c.175G&gt;A (p.(Gly59Arg)) <jats:italic>GJB6<\/jats:italic> variant. As a result, we report on the third case of individuals showing this same missense variant and syndromic hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study underscores the overlapping phenotypes observed in patients with the p.Gly59Arg variant in the <jats:italic>GJB6<\/jats:italic> gene. The findings suggest a continuum of phenotypic presentations for this variant, with the key clinical features being the combination of congenital hearing loss and hyperkeratosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2474","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T05:05:53Z","timestamp":1747285553000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in <scp><i>GJB6<\/i><\/scp> gene"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5312-8612","authenticated-orcid":false,"given":"Badreddine","family":"Elmakhzen","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence CLAD\u2010Ouest, ERN ITHACA, CHU  Rennes France"},{"name":"Service de g\u00e9n\u00e9tique et oncog\u00e9n\u00e9tique, CHU HASSAN 2  F\u00e8s Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Rollier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence CLAD\u2010Ouest, ERN ITHACA, CHU  Rennes France"},{"name":"University of Rennes, CNRS, INSERM, IGDR (Institut de g\u00e9n\u00e9tique et d\u00e9veloppement de Rennes)\u2014UMR 6290, ERL U1305  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e9mence","family":"Saillard","sequence":"additional","affiliation":[{"name":"Department of Dermatology Centre Hospitalier Universitaire Rennes  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Godey","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head Neck Surgery Centre Hospitalier Universitaire  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9dric","family":"Le Marechal","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, CHRU Brest, UMR 1078  Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Gueguen","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire et d'Histocompatibilit\u00e9, CHRU Brest, UMR 1078  Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Fajardy","sequence":"additional","affiliation":[{"name":"Centre de Biologie Pathologie G\u00e9n\u00e9tique, CHU de Lille  Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Centre de R\u00e9f\u00e9rence CLAD\u2010Ouest, ERN ITHACA, CHU  Rennes France"},{"name":"University of Rennes, CNRS, INSERM, IGDR (Institut de g\u00e9n\u00e9tique et d\u00e9veloppement de Rennes)\u2014UMR 6290, ERL U1305  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, Centre R\u00e9f\u00e9rence D\u00e9ficiences Intellectuelles de Cause Rares, ERN ITHACA, CHU  Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30822"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12062"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.138230"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a029348"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/JD9.0000000000000231"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12860\u2010016\u20100092\u2010x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/318803"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.02.048"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700770"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2009.09137.x"},{"key":"e_1_2_10_12_1","unstructured":"Online Mendelian Inheritance in ManOMIM\u00ae. 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