A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family with Van der Woude Syndrome

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 m...

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Bibliographic Details
Published in:The Cleft palate-craniofacial journal 2017-07, Vol.54 (4), p.442-445
Main Authors: Tan, Ene-Choo, Lim, Hwee-Woon, Lim, Eileen C.P., Lee, Seng-Teik
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Asian Continental Ancestry Group - genetics
Cleft Lip - genetics
Cleft Palate - genetics
Cysts - genetics
Dentistry
Deoxyribonucleic acid
DNA
DNA Mutational Analysis
Families & family life
Female
Genealogy
Genes
Genetic testing
Genomes
Genotype & phenotype
Humans
Interferon Regulatory Factors - genetics
Lip - abnormalities
Mutation
Mutation - genetics
Patients
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Proteins
Transcription factors
Young Adult
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Summary: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.
ISSN:1055-6656
1545-1569
DOI:10.1597/15-327