{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:52:14Z","timestamp":1772160734646,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T00:00:00Z","timestamp":1660780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100017532","name":"Medical Technology and Education of Zhejiang Province of China","doi-asserted-by":"publisher","award":["2021KY152"],"award-info":[{"award-number":["2021KY152"]}],"id":[{"id":"10.13039\/501100017532","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["8212200044"],"award-info":[{"award-number":["8212200044"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071085"],"award-info":[{"award-number":["82071085"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Molecular etiology of lingual hamartoma is poorly understood. This study aims to identify potentially deleterious mutations for lingual hamartoma and analyze its molecular profile by a combination of whole\u2010exome sequencing and RNA\u2010sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole\u2010exome sequencing was conducted on the proband presenting lingual hamartoma and patient's unaffected family members. Potentially pathogenic mutations were identified after filtration. The pathogenicity of the identified variants was predicted by in silico algorithms and conservative analysis. RNA\u2010sequencing was performed to further explore the molecular profile of lingual hamartoma.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole\u2010exome sequencing of the proband and patients' unaffected brother and parents identified a de novo mutation c.931C&gt;T_p.Pro311Ser in the\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      gene (NM_001080463.2). The\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      mutation was predicted to be disease\u2010causing for affecting highly conserved amino acid by PolyPhen2 and Mutation Taster. RNA\u2010sequencing analysis showed that the\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      gene was significantly down\u2010regulated in lingual hamartoma. Gene set enrichment analysis revealed cilium assembly and Hedgehog signaling pathway were significantly affected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The study expanded our knowledge on the clinical and genetic spectrum of lingual hamartoma by identifying causal variants in a Chinese pedigree.\n                      <jats:italic>DYNC2H1<\/jats:italic>\n                      is likely to participate in tongue development and its pathologic mutation may underlie the etiology of lingual hamartoma.\n                    <\/jats:p>\n                  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