{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T12:53:10Z","timestamp":1779886390380,"version":"3.53.1"},"reference-count":60,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T00:00:00Z","timestamp":1702080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background\/Objectives<\/jats:title>\n                    <jats:p>Tooth agenesis (TA) is among the most common malformations in humans. Although several causative mutations have been described, the genetic cause often remains elusive. Here, we test whether whole genome sequencing (WGS) could bridge this diagnostic gap.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In four families with TA, we assessed the dental phenotype using the Tooth Agenesis Code after intraoral examination and radiographic and photographic documentation. We performed WGS of index patients and subsequent segregation analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified two variants of uncertain significance (a potential splice variant in\n                      <jats:italic>PTH1R<\/jats:italic>\n                      , and a 2.1\u2009kb deletion abrogating a non\u2010coding element in\n                      <jats:italic>FGF7<\/jats:italic>\n                      ) and three pathogenic variants: a novel frameshift in the final exon of\n                      <jats:italic>PITX2<\/jats:italic>\n                      , a novel deletion in\n                      <jats:italic>PAX9<\/jats:italic>\n                      , and a known nonsense variant in\n                      <jats:italic>WNT10A<\/jats:italic>\n                      . Notably, the\n                      <jats:italic>FGF7<\/jats:italic>\n                      variant was found in the patient, also featuring the\n                      <jats:italic>WNT10A<\/jats:italic>\n                      variant. While mutations in\n                      <jats:italic>PITX2<\/jats:italic>\n                      are known to cause Axenfeld\u2010Rieger syndrome 1 (ARS1) predominantly featuring ocular findings, accompanied by dental malformations, we found the\n                      <jats:italic>PITX2<\/jats:italic>\n                      frameshift in a family with predominantly dental and varying ocular findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Severe TA predicts a genetic cause identifiable by WGS. Final exon\n                      <jats:italic>PITX2<\/jats:italic>\n                      frameshifts can cause a predominantly dental form of ARS1.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14816","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T22:35:43Z","timestamp":1702161343000},"page":"3935-3950","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Whole genome sequencing in families with oligodontia"],"prefix":"10.1111","volume":"30","author":[{"given":"Janna","family":"Mitscherling","sequence":"first","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics, Charit\u00e9 \u2013 Centrum 03 f\u00fcr Zahn\u2010, Mund\u2010 und Kieferheilkunde Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Freie Universit\u00e4t Berlin, Humboldt\u2010Universit\u00e4t zu Berlin, und Berlin Institute of Health  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrike L.","family":"Sczakiel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Berlin Germany"},{"name":"BIH Biomedical Innovation Academy, Junior Clinician Scientist Program Berlin Institute of Health at Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"RG Development &amp; 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