{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:57:45Z","timestamp":1760122665631,"version":"3.37.3"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T00:00:00Z","timestamp":1503360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370473, 81400574, 81570467"],"award-info":[{"award-number":["81370473, 81400574, 81570467"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach.<\/jats:p><jats:p><jats:bold>Materials and Methods:<\/jats:bold> In all eight family members of a non\u2010consanguineous Chinese family, we performed whole\u2010exome sequencing. Subsequently, exome sequencing of <jats:italic>MYH14<\/jats:italic> in 72 unrelated probands with ARMs was performed. The accurate distribution of non\u2010muscle myosin II heavy chain (NMHC II) was investigated by immunohistochemistry in serial sagittal sections of E11.5\u201313.5 mouse cloacal regions.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> A homozygous mutation in <jats:italic>MYH14<\/jats:italic> was identified in the two siblings of family 1. Compound heterozygous <jats:italic>MYH14<\/jats:italic> changes were identified in an unrelated individual. Immunohistochemical analysis suggest stronger NMHC IIC localization in the epithelium of the murine embryonic cloaca, urorectal septum and hindgut compared with another two NMHC II isoforms.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> This is the first identification of mutations in <jats:italic>MYH14<\/jats:italic> as a cause of ARMs. The stronger localization of NMHC IIC in E11.5\u201313.5 mouse cloacal regions further supports the role of MYH14 in anorectal development.<\/jats:p>","DOI":"10.1111\/cge.12993","type":"journal-article","created":{"date-parts":[[2017,2,13]],"date-time":"2017-02-13T15:52:39Z","timestamp":1487001159000},"page":"503-509","source":"Crossref","is-referenced-by-count":15,"title":["Mutations of <i><scp>MYH14<\/scp><\/i> are associated to anorectal malformations with recto\u2010perineal fistulas in a small subset of Chinese population"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3379-9827","authenticated-orcid":false,"given":"Zhongxian","family":"Zhu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health Nanjing Medical University  Nanjing China"},{"name":"Department of Pediatric Surgery Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Peng","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health Nanjing Medical University  Nanjing China"},{"name":"Department of Pediatric Surgery Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanglin","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory 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