title: IRF6 Sequencing in Interrupted Clefting.
abstract: In a retrospective review of patients seen at the University of Alabama at Birmingham Cleft and Craniofacial Center, four patients with rare interrupted clefting were identified who had undergone genetic testing. Each of these patients had a typical cleft lip, with intact hard palate and cleft of the soft palate. Given this picture of mixed clefting, IRF6 sequencing was done and was negative for mutations in all four patients. As genetic testing for single-gene mutations and exome sequencing become clinically available, it may be possible to identify novel mutations responsible for this previously unreported type of interrupted clefting.
authors.forename: Sanmati R
authors.initials: SR
authors.lastname: Cuddapah
authors.forename: Selma
authors.initials: S
authors.lastname: Kominek
authors.forename: John H
authors.initials: JH
authors.lastname: Grant
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: D002971:Cleft Lip / Q000235:genetics* / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D012189:Retrospective Studies
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors
keywords: IRF6; genetic testing; interrupted cleft