{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T14:14:54Z","timestamp":1782656094940,"version":"3.54.5"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T00:00:00Z","timestamp":1624406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002888","name":"Beijing Municipal Commission of Education","doi-asserted-by":"publisher","award":["KZ201810025034"],"award-info":[{"award-number":["KZ201810025034"]}],"id":[{"id":"10.13039\/501100002888","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002799","name":"Capital Medical University","doi-asserted-by":"publisher","award":["BHME\u2010201804"],"award-info":[{"award-number":["BHME\u2010201804"]}],"id":[{"id":"10.13039\/501100002799","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Investigation"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Importance<\/jats:title><jats:p>First branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for &lt; 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole\u2010exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow\u2010Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion\/deletions (indels) were examined using the Genome Analysis Toolkit.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 14 non\u2010synonymous mutations in seven potential FBCA\u2010susceptibility genes (<jats:italic>TRAPPC12<\/jats:italic>, <jats:italic>NRP2<\/jats:italic>, <jats:italic>NPNT<\/jats:italic>, <jats:italic>SH3RF2<\/jats:italic>, <jats:italic>RHPN1<\/jats:italic>, <jats:italic>TENM4<\/jats:italic>, and <jats:italic>ARMCX4<\/jats:italic>). We also detected 133 shared small indels in 125 genes. Gene Ontology analysis indicated that most of the identified genes played critical roles in development and differentiation pathways involved in regulating organ development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular\u2010level support for the branchial theory of FBCA pathogenesis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ped4.12263","type":"journal-article","created":{"date-parts":[[2021,6,23]],"date-time":"2021-06-23T08:36:30Z","timestamp":1624437390000},"page":"211-216","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole\u2010exome sequencing"],"prefix":"10.1002","volume":"5","author":[{"given":"Yeran","family":"Yang","sequence":"first","affiliation":[{"name":"Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"},{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University &amp; Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqiong","family":"Jin","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"},{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University &amp; Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"},{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University &amp; Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Lu","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s 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Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"},{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University &amp; Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujing","family":"Han","sequence":"additional","affiliation":[{"name":"Beijing Key Laboratory for Pediatric Diseases of Otolaryngology Head and Neck Surgery MOE Key Laboratory of Major Diseases in Children Beijing Pediatric Research Institute Beijing Children\u2019s Hospital Capital Medical University National Center for Children\u2019s Health  Beijing China"},{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University &amp; Capital Medical University  Beijing 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