{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T03:47:35Z","timestamp":1776916055667,"version":"3.51.2"},"reference-count":29,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T00:00:00Z","timestamp":1495497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32GM082771"],"award-info":[{"award-number":["T32GM082771"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:title>Objectives\/Hypothesis<\/jats:title><jats:p>A candidate variant (p.Val496Ala) of the <jats:italic>ACSS2<\/jats:italic> gene (T &gt; C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and\/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this <jats:italic>ACSS2<\/jats:italic> variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Case\u2013control studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sanger sequencing of 99 unrelated Honduran NSCLP patients and 215 unrelated unaffected controls for the p.Val496Ala <jats:italic>ACSS2<\/jats:italic> variant was used to determine the carrier frequency in NSCLP patients and controls. Sanger sequencing of 230 unrelated Colombian NSCLP patients and 146 unrelated unaffected controls for the p.Val496Ala <jats:italic>ACSS2<\/jats:italic> variant was used to determine the carrier frequency in NSCLP patients and controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the Honduran population, the odds ratio of having NSCLP among carriers of the p.Val496Ala <jats:italic>ACSS2<\/jats:italic> variant was 4.0 (<jats:italic>P<\/jats:italic> = .03), with a carrier frequency of seven of 99 (7.1%) in unrelated affected and four of 215 (1.9%) in unrelated unaffected individuals. In the Colombian population, the odds ratio of having NSCLP among carriers of the p.Val496Ala <jats:italic>ACSS2<\/jats:italic> variant was 2.6 (<jats:italic>P<\/jats:italic> = .04), with a carrier frequency of 23 of 230 (10.0%) in unrelated affected and six of 146 (4.1%) in unrelated unaffected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These findings support the role of <jats:italic>ACSS2<\/jats:italic> in NSCLP in two independent Hispanic populations from Honduras and Colombia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Level of Evidence<\/jats:title><jats:p>NA <jats:italic>Laryngoscope<\/jats:italic>, 127:E336\u2013E339, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.26637","type":"journal-article","created":{"date-parts":[[2017,5,24]],"date-time":"2017-05-24T00:47:58Z","timestamp":1495586878000},"source":"Crossref","is-referenced-by-count":4,"title":["<i>ACSS2<\/i> gene variant associated with cleft lip and palate in two independent Hispanic populations"],"prefix":"10.1002","volume":"127","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8195-0475","authenticated-orcid":false,"given":"Sonam","family":"Dodhia","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Columbia University Medical Center New York New York U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina","family":"Celis","sequence":"additional","affiliation":[{"name":"John P. Hussman Institute for Genomics University of Miami Miami Florida U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alana","family":"Aylward","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery University of Utah Salt Lake City Utah U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0853-2779","authenticated-orcid":false,"given":"Yi","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2013Head and Neck Surgery Columbia University Medical Center New York New York U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria E.","family":"Fontana","sequence":"additional","affiliation":[{"name":"College of Dental Medicine Columbia University New York New York U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Trespalacios","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Hernando Moncaleano University Hospital Neiva Huila Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Staten Island University Hospital Staten Island New York U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry Ostos","family":"Alfonso","sequence":"additional","affiliation":[{"name":"Laboratory of Genomic Medicine South Colombian University Neiva Huila Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sidney B.","family":"Eisig","sequence":"additional","affiliation":[{"name":"Department of Craniofacial Surgery Columbia University Medical Center New York New York 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