{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:32:45Z","timestamp":1777523565122,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T00:00:00Z","timestamp":1630281600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100002001","name":"Health Services and Delivery Research Programme","doi-asserted-by":"publisher","award":["R01 DE 28300"],"award-info":[{"award-number":["R01 DE 28300"]}],"id":[{"id":"10.13039\/501100002001","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R00 DE022378"],"award-info":[{"award-number":["R00 DE022378"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Smile Train"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL\u2009\u00b1\u2009P). Recently, variants in Grainyhead like transcription factor 3 (\n                      <jats:italic>GRHL3<\/jats:italic>\n                      ) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced\n                      <jats:italic>GRHL3<\/jats:italic>\n                      in a South African population to determine if rare variants in\n                      <jats:italic>GRHL3<\/jats:italic>\n                      are associated with the presence of syndromic or nonsyndromic CP.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>\n                      We sequenced the exons of\n                      <jats:italic>GRHL3<\/jats:italic>\n                      in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children's Hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients, participants<\/jats:title>\n                    <jats:p>One hundred patients with CL\u2009\u00b1\u2009P and their parents.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interventions<\/jats:title>\n                    <jats:p>Saliva samples were collected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measures<\/jats:title>\n                    <jats:p>\n                      To ascertain the genetic variants in the\n                      <jats:italic>GRHL3<\/jats:italic>\n                      gene in patients with CL\u2009\u00b1\u2009P in SA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Five variants in\n                      <jats:italic>GRHL3<\/jats:italic>\n                      were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062\u2009+\u200977A&gt;G and c.627\u2009+\u20091G&gt;A) and missense variant (p.Asp169Gly).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study provides further evidence that variants in\n                      <jats:italic>GRHL3<\/jats:italic>\n                      contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656211038453","type":"journal-article","created":{"date-parts":[[2021,8,30]],"date-time":"2021-08-30T09:04:48Z","timestamp":1630314288000},"page":"1125-1130","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel GRHL3 Variants in a South African Cohort With Cleft Lip and Palate"],"prefix":"10.1177","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7146-7159","authenticated-orcid":false,"given":"Thirona","family":"Naicker","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Clinical Genetics, University of KwaZulu-Natal and Inkosi Albert Luthuli Central Hospital, Durban, South Africa"},{"name":"Smile Train Partner"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chinyere C.","family":"Adeleke","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azeez","family":"Alade","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, University of Dundee, Dundee, UK"},{"name":"Smile Train Global Medical Advisory Board, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waheed A.","family":"Awotoye","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara D.","family":"Busch","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Olotu","sequence":"additional","affiliation":[{"name":"Department of Anatomy, University of Port Harcourt, Rivers State, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0080-9101","authenticated-orcid":false,"given":"Lord J. J.","family":"Gowans","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"Aldous","sequence":"additional","affiliation":[{"name":"School of Clinical Medicine, University of KwaZulu-Natal, Durban, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry, The University of Iowa, Iowa City, IA, USA"},{"name":"Smile Train Research and Innovation Advisory Council, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,8,30]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.11.011"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1597\/12-135"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.11604\/pamj.2015.21.229.7380"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517729819"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516657003"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0215931"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_3_3_12_1","doi-asserted-by":"publisher","DOI":"10.7196\/SAMJ.2016.v106i10.11314"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.014"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.013"},{"key":"e_1_3_3_15_1","unstructured":"Mossey PA Catilla EE; WHO Registry Meeting on Craniofacial Anomalies; WHO Human Genetics Programme & WHO Meeting on International Collaborative Research on Craniofacial Anomalies (\u201c3rd : 2001 : Bauru Brazil)\u201d. Global registry and database on craniofacial anomalies: report of a WHO registry meeting on craniofacial anomalies. 2003. 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