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Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.
Clin Genet. 2014 May; 85(5):487-91.CG

Abstract

The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude syndrome (VWS) and poplyteal pterygium syndrome has been described in different populations worldwide. The former is one of the major syndromes of cleft lip and/or cleft palate (CL/P) with the distinct phenotype of presence of pits with or without sinuses on the lower lip. We identified seven probands with VWS from Punjab province of Pakistan and recognized two previously unreported lip pit phenotypes. The mutational analysis of IRF6 in this cohort revealed four novel and two previously reported mutations. The newly identified mutations include three frameshifts (c.635delG; c.21_33del13; c.627delC) and one transition mutation (c.2T>C) affecting the first codon of IRF6. Together with a past epidemiological study on VWS in Pakistan, the frequency of this syndrome among CL/P individuals from Punjab was calculated to be 1.17%.

Authors+Show Affiliations

School of Biological Sciences; Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, Pakistan.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23713753

Citation

Malik, S, et al. "Novel Lip Pit Phenotypes and Mutations of IRF6 in Van Der Woude Syndrome Patients From Pakistan." Clinical Genetics, vol. 85, no. 5, 2014, pp. 487-91.
Malik S, Wilcox ER, Naz S. Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clin Genet. 2014;85(5):487-91.
Malik, S., Wilcox, E. R., & Naz, S. (2014). Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clinical Genetics, 85(5), 487-91. https://doi.org/10.1111/cge.12207
Malik S, Wilcox ER, Naz S. Novel Lip Pit Phenotypes and Mutations of IRF6 in Van Der Woude Syndrome Patients From Pakistan. Clin Genet. 2014;85(5):487-91. PubMed PMID: 23713753.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. AU - Malik,S, AU - Wilcox,E R, AU - Naz,S, Y1 - 2013/06/24/ PY - 2013/03/09/received PY - 2013/05/23/revised PY - 2013/5/30/entrez PY - 2013/5/30/pubmed PY - 2014/12/15/medline KW - IRF6 KW - Pakistan KW - Van der Woude syndrome KW - cleft lip KW - cleft palate KW - lip pits SP - 487 EP - 91 JF - Clinical genetics JO - Clin. Genet. VL - 85 IS - 5 N2 - The role of interferon regulatory factor 6 (IRF6) gene mutations in causing Van der Woude syndrome (VWS) and poplyteal pterygium syndrome has been described in different populations worldwide. The former is one of the major syndromes of cleft lip and/or cleft palate (CL/P) with the distinct phenotype of presence of pits with or without sinuses on the lower lip. We identified seven probands with VWS from Punjab province of Pakistan and recognized two previously unreported lip pit phenotypes. The mutational analysis of IRF6 in this cohort revealed four novel and two previously reported mutations. The newly identified mutations include three frameshifts (c.635delG; c.21_33del13; c.627delC) and one transition mutation (c.2T>C) affecting the first codon of IRF6. Together with a past epidemiological study on VWS in Pakistan, the frequency of this syndrome among CL/P individuals from Punjab was calculated to be 1.17%. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/23713753/Novel_lip_pit_phenotypes_and_mutations_of_IRF6_in_Van_der_Woude_syndrome_patients_from_Pakistan_ L2 - https://doi.org/10.1111/cge.12207 DB - PRIME DP - Unbound Medicine ER -