{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:52:54Z","timestamp":1774565574708,"version":"3.50.1"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"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. Genet."],"abstract":"<jats:p>\n                    Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive disorder caused by pathogenic variants in the\n                    <jats:italic>WNT10A<\/jats:italic>\n                    gene, which plays a crucial role in ectodermal tissue development, including teeth, hair, nails, and skin. We describe an 18-year-old male of Afghan origin, born to consanguineous parents, who was evaluated during an extensive genetic family screening for an unrelated ataxia variant. The patient reported long-standing dental abnormalities, sparse hair, nail defects and hyperhidrosis. Examination revealed severe hypodontia, atypical dental morphology, retained deciduous teeth, smooth tongue due to reduced lingual papillae and dysmorphic nail growth. Trio whole-genome sequencing identified a novel homozygous frameshift variant in\n                    <jats:italic>WNT10A<\/jats:italic>\n                    [c.694del, p. (Arg232GlyfsTer11)] in the index patient. Segregation within the trio confirmed heterozygosity in both parents, supporting the diagnosis of OODD. Our case expands the spectrum of\n                    <jats:italic>WNT10A<\/jats:italic>\n                    mutations causing OODD by identifying a novel causative variant and highlights the value of comprehensive genetic screening, especially in populations with high consanguinity for assessing incidental clinically relevant findings and diagnosing rare conditions.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1750692","type":"journal-article","created":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T22:10:19Z","timestamp":1774563019000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Novel pathogenic variant in autosomal recessive WNT10A-related odonto-onycho-dermal dysplasia"],"prefix":"10.3389","volume":"17","author":[{"given":"Marianna","family":"Kalaszi","sequence":"first","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital","place":["Dublin, Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciaran","family":"Moore","sequence":"additional","affiliation":[{"name":"Division of Restorative Dentistry and Periodontology, Dublin Dental University Hospital","place":["Dublin, Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrysoula","family":"Koniari","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens","place":["Athens, Greece"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodoros","family":"Mavridis","sequence":"additional","affiliation":[{"name":"Department of Neurology, Tallaght University Hospital","place":["Dublin, Ireland"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"100838","DOI":"10.1016\/j.diff.2025.100838","article-title":"The fundamentals of WNT10A","volume":"142","author":"Benard","year":"2025","journal-title":"Differentiation"},{"key":"B2","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.ajhg.2009.06.001","article-title":"WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes","volume":"85","author":"Bohring","year":"2009","journal-title":"Am. 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Genet. and Genomic Med."},{"key":"B8","unstructured":"#257980 - ODONTOONYCHODERMAL DYSPLASIA; OODD - OMIM - (OMIM.ORG)\n          \n          \n          2019"},{"key":"B9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical Genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B10","doi-asserted-by":"publisher","first-page":"13","DOI":"10.3389\/fgene.2022.1000744","article-title":"Ectodermal dysplasias: new perspectives on the treatment of so far immedicable genetic disorders","volume":"13","author":"Schneider","year":"2022","journal-title":"Front. 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Genetics"},{"key":"B14","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1136\/jmedgenet-2012-100750","article-title":"Mutations in WNT10A are present in more than half of isolated hypodontia cases","volume":"49","author":"van den Boogaard","year":"2012","journal-title":"J. Med. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1186\/s12859-022-04759-y","article-title":"QuickPed: an online tool for drawing pedigrees and analysing relatedness","volume":"23","author":"Vigeland","year":"2022","journal-title":"BMC Bioinforma."},{"key":"B16","doi-asserted-by":"publisher","first-page":"15397","DOI":"10.1038\/ncomms15397","article-title":"WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation","volume":"8","author":"Xu","year":"2017","journal-title":"Nat. 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