title: A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.
abstract: Van der Woude syndrome (VWS) is a rare autosomal dominant genetic disorder characterized by orofacial clefting and lip pits. Mutations in the transcription factor interferon regulatory factor 6 gene (IRF6) have been identified in individuals with VWS. We performed direct sequencing of the gene for molecular investigation of a proband with Bangladeshi-Malay ancestry. A novel transition mutation (c.113T>C), which resulted in an amino acid substitution (p.Ile38Thr) in the deoxyribonucleic acid-binding domain was detected. Testing of family members showed that the mutation segregated with the VWS phenotype for members of her immediate family. Although there is some phenotypic variability, all of the affected members are of the female gender.
authors.forename: Ene-Choo
authors.initials: EC
authors.lastname: Tan
authors.forename: Hwee-Woon
authors.initials: HW
authors.lastname: Lim
authors.forename: Eileen C P
authors.initials: ECP
authors.lastname: Lim
authors.forename: Seng-Teik
authors.initials: ST
authors.lastname: Lee
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors
keywords: IRF6; Van der Woude syndrome; cleft lip; cleft palate; lip pits