{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:08:22Z","timestamp":1773785302919,"version":"3.50.1"},"reference-count":47,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"JSPS KAKENHI","doi-asserted-by":"publisher","award":["21H03137"],"award-info":[{"award-number":["21H03137"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"JSPS KAKENHI","doi-asserted-by":"publisher","award":["JPMJFS21"],"award-info":[{"award-number":["JPMJFS21"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"MEXT","doi-asserted-by":"publisher","award":["21H03137"],"award-info":[{"award-number":["21H03137"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"MEXT","doi-asserted-by":"publisher","award":["JPMJFS21"],"award-info":[{"award-number":["JPMJFS21"]}],"id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Limited mouth opening is a characteristic of masticatory muscle tendon-aponeurosis hyperplasia (MMTAH). Although genetic involvement is suspected where familial onset is frequently observed, the genetic background of MMTAH is yet to be elucidated. In this study, we conducted whole genome sequencing of 10 patients with MMTAH and their family members when available. We also conducted RNA sequencing of normal temporal tendon (as disease region) and Achilles tendon (as control region) from commercially available pig samples. We identified 51 genes that had rare variants in patients with MMTAH and were highly expressed in the temporal tendons of pigs. Among the 51 genes, 37 genes have not been reported to be causative for human genetic diseases so far. As an implication of genetic involvement in the pathogenesis of MMTAH, 21 of these 37 genes were identified in two independent families. In particular, PCDH1 and BAIAP3 were identified in one affected individual in a family and consistently segregated in unrelated family, indicating they could be candidate causative genes of MMTAH. Our findings will help elucidate the genetic landscape of MMTAH and provide insights into future possibilities for tendon regeneration treatment.<\/jats:p>","DOI":"10.3390\/genes14091718","type":"journal-article","created":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T08:35:05Z","timestamp":1693298105000},"page":"1718","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic Landscape of Masticatory Muscle Tendon\u2013Aponeurosis Hyperplasia"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6577-1581","authenticated-orcid":false,"given":"Rina","family":"Tajima","sequence":"first","affiliation":[{"name":"Department of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1109-196X","authenticated-orcid":false,"given":"Tsuyoshi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Saitama Medical University, 38 Morohongou, Moroyama-machi, Iruma-gun 350-0495, Saitama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9081-8348","authenticated-orcid":false,"given":"Kokoro","family":"Ozaki","sequence":"additional","affiliation":[{"name":"Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daisuke","family":"Motooka","sequence":"additional","affiliation":[{"name":"Genome Information Research Center, Research Institute for Microbial Diseases, Osaka University, Suita 565-0871, Osaka, Japan"},{"name":"Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita 565-0871, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-5502","authenticated-orcid":false,"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan"},{"name":"Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Kanagawa, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Yoda","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8549, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6","DOI":"10.11607\/jop.1151","article-title":"Diagnostic Criteria for Temporomandibular Disorders (DC\/TMD) for Clinical and Research Applications: Recommendations of the International RDC\/TMD Consortium Network and Orofacial Pain Special Interest Group","volume":"28","author":"Schiffman","year":"2014","journal-title":"J. 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