{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T22:57:03Z","timestamp":1768085823352,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T00:00:00Z","timestamp":1603411200000},"content-version":"vor","delay-in-days":296,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000427"],"award-info":[{"award-number":["82000427"]}],"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":["81970403"],"award-info":[{"award-number":["81970403"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Cleft lip with or without cleft palate (CL\/P) is the most common facial birth defect, with a worldwide incidence of 1 in 700\u20101000 live births. CL\/P can be divided into syndromic CL\/P (SCL\/P) and nonsyndromic CL\/P (NSCL\/P). Genetic factors are an important component to the etiology of NSCL\/P. <jats:italic>ARHGAP29<\/jats:italic>, one of the NSCL\/P disease\u2010causing genes, mediates the cyclical regulation of small GTP binding proteins such as RhoA and plays an essential role in cellular shape, proliferation, and craniofacial development. <jats:italic>Methods<\/jats:italic>. The present study investigated a Chinese family with NSCL\/P and explored potential pathogenic variants using whole\u2010exome sequencing (WES). Variants were screened and filtered through bioinformatic analysis and prediction of variant pathogenicity. Cosegregation was subsequently conducted. <jats:italic>Results<\/jats:italic>. We identified a novel heterozygous missense variant of <jats:italic>ARHGAP29<\/jats:italic> (c.2615C\u2009&gt;\u2009T, p.A872V) in a Chinese pedigree with NSCL\/P. <jats:italic>Conclusion<\/jats:italic>. We detected the disease\u2010causing variant in this NSCL\/P family. Our identification expands the genetic spectrum of <jats:italic>ARHGAP29<\/jats:italic> and contributes to novel approaches to the genetic diagnosis and counseling of CL\/P families.<\/jats:p>","DOI":"10.1155\/2020\/8790531","type":"journal-article","created":{"date-parts":[[2020,10,24]],"date-time":"2020-10-24T07:46:00Z","timestamp":1603525560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a Novel Variant of <i>ARHGAP29<\/i> in a Chinese Family with Nonsyndromic Cleft Lip and Palate"],"prefix":"10.1155","volume":"2020","author":[{"given":"Jian-Xia","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang-Shui","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-1838","authenticated-orcid":false,"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,10,23]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1597\/06-075.1"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.04.009"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedneo.2018.04.008"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1908180116"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1630"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2018.08.001"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.022"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23076"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23596"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2015.0325"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01453-14"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-105110"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.9503.1"},{"key":"e_1_2_9_18_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12823"},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.4103\/1305-7456.143637"},{"key":"e_1_2_9_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.004"},{"key":"e_1_2_9_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36691"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2020\/8790531.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2020\/8790531.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2020\/8790531","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T07:50:23Z","timestamp":1735631423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2020\/8790531"}},"subtitle":[],"editor":[{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1155\/2020\/8790531"],"URL":"https:\/\/doi.org\/10.1155\/2020\/8790531","archive":["Portico"],"relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"value":"2314-6133","type":"print"},{"value":"2314-6141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"2020-05-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8790531"}}