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A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.
Cleft Palate Craniofac J. 2017 07; 54(4):442-445.CP

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

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27243668

Citation

Tan, Ene-Choo, et al. "A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van Der Woude Syndrome." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 54, no. 4, 2017, pp. 442-445.
Tan EC, Lim HW, Lim ECP, et al. A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. Cleft Palate Craniofac J. 2017;54(4):442-445.
Tan, E. C., Lim, H. W., Lim, E. C. P., & Lee, S. T. (2017). A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 54(4), 442-445. https://doi.org/10.1597/15-327
Tan EC, et al. A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van Der Woude Syndrome. Cleft Palate Craniofac J. 2017;54(4):442-445. PubMed PMID: 27243668.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. AU - Tan,Ene-Choo, AU - Lim,Hwee-Woon, AU - Lim,Eileen C P, AU - Lee,Seng-Teik, Y1 - 2016/05/31/ PY - 2016/6/1/pubmed PY - 2018/5/22/medline PY - 2016/6/1/entrez KW - IRF6 KW - Van der Woude syndrome KW - cleft lip KW - cleft palate KW - lip pits SP - 442 EP - 445 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac. J. VL - 54 IS - 4 N2 - 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. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/27243668/A_Novel_Interferon_Regulatory_Factor_6_Mutation_in_an_Asian_Family_With_Van_der_Woude_Syndrome_ L2 - http://journals.sagepub.com/doi/full/10.1597/15-327?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -