{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:54:49Z","timestamp":1790420089905,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (<jats:italic>GJA1<\/jats:italic>) gene. <jats:italic>GJA1<\/jats:italic> gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe two unrelated female probands referred for a\u00a0genetic review\u00a0in view of a dysmorphic clinical phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two novel missense mutations in <jats:italic>GJA1<\/jats:italic> that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5: c.77T&gt;C p.Leu26Pro and NM_000165.5:c.287T&gt;G p.Val96Gly) were detected through targeted sequencing of <jats:italic>GJA1<\/jats:italic>. These variants were detected in the heterozygous state in the two Maltese probands and segregated with the disease phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report further expands the mutational spectrum of ODDD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.882","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T03:59:50Z","timestamp":1564113590000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Two novel <i>GJA1<\/i> variants in oculodentodigital dysplasia"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7332-874X","authenticated-orcid":false,"given":"Nikolai P.","family":"Pace","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine and Biobanking University of Malta Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Benoit","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biologie Mol\u00e9culaire Institut de Pathologie et de G\u00e9n\u00e9tique ASBL Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Agius","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Mater Dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Angela","family":"Grima","sequence":"additional","affiliation":[{"name":"Department of Medicine Mater Dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Parascandalo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mater Dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Hilbert","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biologie Mol\u00e9culaire Institut de Pathologie et de G\u00e9n\u00e9tique ASBL Gosselies Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Borg","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Biobanking University of Malta Msida Malta"},{"name":"Department of Pathology, Faculty of Medicine and Surgery University of Malta Msida Malta"},{"name":"Medical Genetics Unit, Department of Pathology Mater Dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2011.08.015"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/0470867302.ch14"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12158"},{"issue":"6","key":"e_1_2_7_5_1","first-page":"776","article-title":"Oculodentodigital dysplasia with a novel mutation in GJA1 diagnosed by targeted gene panel sequencing: A case report and literature review","volume":"48","author":"Choi J.","year":"2018","journal-title":"Annals of Clinical and Laboratory Science"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2013.00120"},{"key":"e_1_2_7_7_1","volume-title":"Gorlin\u2019s syndromes of the head and neck","author":"Hennekam R.","year":"2010"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.01.066"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020010436007"},{"issue":"3","key":"e_1_2_7_10_1","first-page":"241","article-title":"A novel GJA 1 mutation in oculo\u2010dento\u2010digital dysplasia with curly hair and hyperkeratosis","volume":"16","author":"Kelly S. 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