{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:33:35Z","timestamp":1770219215772,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,4]]},"abstract":"X\u2010linked cleft palate (CPX<\/jats:styled-content>) is caused by mutations in the gene encoding the TBX22<\/jats:styled-content> transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankyloglossia. This study hypothesized a possible involvement of TBX22<\/jats:styled-content> in a family with X\u2010linked, CHARGE<\/jats:styled-content>\u2010like Abruzzo\u2013Erickson syndrome, of unknown etiology. The phenotype extends to additional features including sensorineural deafness and coloboma, which are suggested by the Tbx22<\/jats:italic> developmental expression pattern but not previously associated in CPX<\/jats:styled-content> patients. A novel TBX22<\/jats:styled-content><\/jats:italic> splice acceptor mutation (c.593\u22125T<\/jats:styled-content>>A) was identified that tracked with the phenotype in this family. A novel splice donor variant (c.767+5G<\/jats:styled-content>>A) and a known canonical splice donor mutation (c.767+1G<\/jats:styled-content>>A) affecting the same exon were identified in patients with classic CPX<\/jats:styled-content> phenotypes and were comparatively analyzed using both in silico<\/jats:italic> and in vitro<\/jats:italic> splicing studies. All three variants were predicted to abolish normal mRNA<\/jats:styled-content> splicing and an in vitro<\/jats:italic> assay indicated that use of alternative splice sites was a likely outcome. Collectively, the data showed the functional effect of several novel intronic splice site variants but most importantly confirms that TBX22<\/jats:styled-content><\/jats:italic> is the gene underlying Abruzzo\u2013Erickson syndrome, expanding the phenotypic spectrum of TBX22<\/jats:styled-content><\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01930.x","type":"journal-article","created":{"date-parts":[[2012,7,11]],"date-time":"2012-07-11T17:49:08Z","timestamp":1342028948000},"page":"352-358","source":"Crossref","is-referenced-by-count":23,"title":["X\u2010linked CHARGE<\/scp>\u2010like Abruzzo\u2013Erickson syndrome and classic cleft palate with\u00a0ankyloglossia result from TBX22<\/i> splicing mutations"],"prefix":"10.1111","volume":"83","author":[{"given":"E","family":"Pauws","sequence":"first","affiliation":[{"name":"UCL Institute of Child Health 30 Guilford Street London 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