{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T05:11:48Z","timestamp":1770873108315,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T00:00:00Z","timestamp":1756512000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T00:00:00Z","timestamp":1756512000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["000064203\/6003"],"award-info":[{"award-number":["000064203\/6003"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["LM2018132"],"award-info":[{"award-number":["LM2018132"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X\u2010linked disorders caused by\n                    <jats:italic>FLNA<\/jats:italic>\n                    gene variants, with phenotypes ranging from mild skeletal anomalies to severe multisystem malformations. We describe two unrelated cases: a 14\u2010year\u2010old male (P1, FMD) and an aborted fetus (P2, OPD2). Whole\u2010exome sequencing identified hemizygous maternally inherited\n                    <jats:italic>FLNA<\/jats:italic>\n                    gene variants in P1 (c.733G&gt;A; p.Glu245Lys) and P2 (c.3707G&gt;A; p.Gly1236Asp, novel), expanding the OPD2 mutational spectrum (NM_001110556). P1 presented with facial dysmorphism, dental anomalies, flattened thumbs, and dermatoglyphic changes; P2 showed facial dysmorphism, skeletal and cardiac malformations, and omphalocele. These cases underscore the breadth of OPDSD phenotypic variability and add novel genetic data. Dental management demands multidisciplinary care from infancy through adolescence, including cleft repair, orthodontics for micrognathia and facial aesthetics, and treatment of dental anomalies. Early recognition, molecular diagnosis, and coordinated management are critical for improving outcomes in these complex disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.70056","type":"journal-article","created":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T08:06:16Z","timestamp":1756541176000},"page":"546-551","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on\n                    <scp>\n                      <i>FLNA<\/i>\n                    <\/scp>\n                    Gene Variants"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5585-8376","authenticated-orcid":false,"given":"Martin","family":"Schwarz","sequence":"first","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University  Prague Czech Republic"},{"name":"Medical Genetics Department PRENET\u2014Laborato\u0159e L\u00e9ka\u0159sk\u00e9 Genetiky, s.r.o.  Pardubice Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9332-3709","authenticated-orcid":false,"given":"Miroslav","family":"Fi\u0161er","sequence":"additional","affiliation":[{"name":"Medical Genetics Department PRENET\u2014Laborato\u0159e L\u00e9ka\u0159sk\u00e9 Genetiky, s.r.o.  Pardubice Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3517-6339","authenticated-orcid":false,"given":"Lenka","family":"\u0160odkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Stomatology 2nd Medical Faculty Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0936-4367","authenticated-orcid":false,"given":"Eva","family":"M\u00ed\u0161ov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Stomatology 2nd Medical Faculty Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9321-7385","authenticated-orcid":false,"given":"Martin","family":"Drahansk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Anthropology, Faculty of Science Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1023-5396","authenticated-orcid":false,"given":"Tom\u00e1\u0161","family":"Vok\u00e1lek","sequence":"additional","affiliation":[{"name":"Department of Criminalist Technology and Expertise Military Police  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2844-4076","authenticated-orcid":false,"given":"Renata","family":"Michalovsk\u00e1","sequence":"additional","affiliation":[{"name":"Medical Genetics Department GHC GENETICS, s.r.o.  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3004-0006","authenticated-orcid":false,"given":"Ad\u00e9la","family":"Mat\u011bjkov\u00e1","sequence":"additional","affiliation":[{"name":"The Fingerland Department of Pathology University Hospital Hradec Kr\u00e1lov\u00e9  Hradec Kr\u00e1lov\u00e9 Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9389-1917","authenticated-orcid":false,"given":"Jaroslava","family":"Jindrov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Stomatology 2nd Medical Faculty Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3264-7995","authenticated-orcid":false,"given":"\u0160\u00e1rka","family":"Bendov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-5280","authenticated-orcid":false,"suffix":"Jr.","given":"Milan","family":"Macek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1967.02090170078006"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.001"},{"key":"e_1_2_9_5_1","volume-title":"GeneReviews [Internet]","author":"Robertson S.","year":"1993"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.591323"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2012.02.010"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21082696"},{"key":"e_1_2_9_9_1","first-page":"394","volume-title":"Mastering Digital Dental Photography","author":"Bengel W.","year":"2006"},{"key":"e_1_2_9_10_1","unstructured":"International Organization for Standardization \u201cDesignation System for Teeth and Areas of the Oral Cavity [Internet] \u201d2016[cited January 30 2025] https:\/\/standards.iteh.ai\/catalog\/standards\/sist\/e65c0b42\u20103a2f\u20104798\u20108ea0\u2010dd4f35590233\/iso\u20103950\u20102016."},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31322"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12679"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70056","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70056","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70056","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T04:34:48Z","timestamp":1770870888000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,30]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1111\/cge.70056"],"URL":"https:\/\/doi.org\/10.1111\/cge.70056","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,30]]},"assertion":[{"value":"2025-06-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}