Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

At a glance: The ONWARDS insulin icodec trials

A round-up of the ONWARDS phase 3 clinical trials evaluating the novel weekly insulin icodec in people with diabetes.
ADVANCED SEARCH
Log in
Top
European Journal of Plastic Surgery
Published in: European Journal of Plastic Surgery 6/2014

01-06-2014 | Original Paper

Sequencing of the interferon regulatory factor 6 (IRF6) gene and correlation to its phenotypes in familial non-syndromic cleft lip and palate in North Indian population

Authors: Rohit Khanna, Tripti Tikku, Gulshan Subodh Jain, Kamna Srivastava, Mahendra P Darokar, Raj Kumar Mishra

Published in: European Journal of Plastic Surgery | Issue 6/2014

Login to get access

Abstract

Background

The incidence of orofacial clefting varies depending upon geographical location, ethnicity, sex and even socioeconomic status. The study aimed to test the contribution of interferon regulatory factor 6 (IRF6) gene allelic variation to the incidence of non-syndromic cleft lip and/or cleft palate (CL/P) from the population of North India.

Methods

Patients from 12 North Indian families with non-syndromic cleft lip with or without cleft palate (NSCL/P) with at least two members affected were clinically evaluated and tested. DNA was extracted from the blood, and three exonic part of the IRF6 gene (exons 2, 5 and 7) were amplified by PCR. Direct sequencing was performed by PCR product, and sequencing results were compared with the reference DNA sequence of the IRF6 gene.

Results

Three SNPs (rs861019, rs2013162 and rs2235372) in 4 out of 12 families were observed. SNP rs861019 was detected in family no. 4 (F4) around exon 2, SNP 2013162 was detected in family no. 10 (F10) and SNP 2235372 was detected in family nos. 5 and 9 (F5 and F9).

Conclusions

This study demonstrates that the three SNPs within the IRF6 gene are associated with NSCL/P, suggesting IRF6 gene sequence variability and variation in this gene, providing first genetic clue to the NSCL/P phenotype in North Indian families. This is our initial step to demonstrate the involvement of the IRF6 gene in NSCL/P patients in North India. Further extensive study and statistical analysis are needed to validate our result.
Level of Evidence: Level IV, diagnostic study.
Literature
1.
Marazita ML, Mooney MP (2004) Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg 31(2):125–140PubMedCrossRef
2.
Croen LA, Shaw GM, Jensvold NG, Harris JA (1991) Birth defects monitoring in California: a resource for epidemiological research. Paediatr Perinat Epidemiol 5:423–27PubMedCrossRef
3.
Ankola AV, Nagesh L, Hegde P, Karibasappa (2005) Primary dentition status and treatment needs of children with cleft lip and/or palate. J Indian Soc Pedod Prev Dent 23:80–82PubMedCrossRef
4.
5.
Schutte BC, Murray JC (1999) The many faces and factors of orofacial clefts. Hum Mol Genet 8:1853–1859PubMedCrossRef
6.
Mitchell LE, Risch N (1992) Mode of inheritance of nonsyndromic cleft lip with or without cleft palate. Am J Hum Genet 51(2):323–332PubMedCentralPubMed
7.
Wyszynski DF, Beaty TH (1996) Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts. Teratology 53(5):309–317PubMedCrossRef
8.
9.
10.
Stanier P, Moore GE (2004) Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 1:13
11.
Schutte BC, Sander A, Malik M, Murray JC (1996) Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41. Genomics 36(3):507–514PubMedCrossRef
12.
Janku P, Robinow M, Kelly T, Bralley R, Baynes A, Edgerton MT et al (1980) The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. Am J Med Genet 5:117–123PubMedCrossRef
13.
Shprintzen RJ, Goldberg RB, Sidoti EJ (1980) The penetrance and variable expression of the Vander Woude syndrome: implications for genetic counseling. Cleft Palate J 17(1):52–57PubMed
14.
Ranta R, Rintala AE (1983) Correlations between microforms of the Van der Woude syndrome and cleft palate. Cleft Palate J 20(2):158–162PubMed
15.
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y et al (2002) Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32(2):219–220CrossRef
16.
Wang X, Liu J, Zhang H, Xiao M, Li J, Yang C et al (2003) Novel mutations in the IRF6 gene for Van der Woude syndrome. Hum Genet 113:382–386PubMedCrossRef
17.
Kayano S, Kure S, Suzuki Y, Kanno K, Aoki Y, Kondo S et al (2003) Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. Hum Genet 48:622–628CrossRef
18.
19.
20.
21.
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomu-ceno B, Ribeiro L et al (2004) Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769–780PubMedCrossRef
22.
Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, Hecht JT (2005) Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet 137A:259–262PubMedCrossRef
23.
Ghassibé M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R et al (2005) Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet 13:1239–1242PubMedCrossRef
24.
Park JW, Mcintosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Craig A et al (2007) Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med 9:219–227PubMedCentralPubMedCrossRef
25.
Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M et al (2005) Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76:180–183PubMedCentralPubMedCrossRef
26.
Srichomthong C, Siriwan P, Shotelersuk V (2005) Significant association between IRF6 820G > A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 42:e46PubMedCentralPubMedCrossRef
27.
Morkūnienė A, Steponavičiūtė D, Kasnauskienė J, Kučinskas V (2006) Nucleotide sequence changes in the MSX1 and IRF6 genes in Lithuanian patients with nonsyndromic orofacial clefting. Acta Med Lituanica 13(4):219–225
28.
Pegelow M, Peyrard-Janvid M, Zucchelli M, Fransson I, Larson O, Kere J, Larsson C et al (2008) Familial non-syndromic cleft lip and palate—analysis of the IRF6 gene and clinical phenotypes. Eur J Orthod 30:169–175PubMedCrossRef
29.
Diercks GR, Karnezis TT, Kent DT, Flores C, Su GH, Lee JH, Haddad J Jr (2009) The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. Laryngoscope 119(9):1759–1764PubMedCrossRef
30.
Larrabee YC, Birkeland AC, Kent DT, Flores C, Su GH, Lee JH, Haddad J Jr (2011) Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population. Laryngoscope 121(8):1756–1759PubMedCrossRef
Metadata
Title
Sequencing of the interferon regulatory factor 6 (IRF6) gene and correlation to its phenotypes in familial non-syndromic cleft lip and palate in North Indian population
Authors
Rohit Khanna
Tripti Tikku
Gulshan Subodh Jain
Kamna Srivastava
Mahendra P Darokar
Raj Kumar Mishra
Publication date
01-06-2014
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Plastic Surgery / Issue 6/2014
Print ISSN: 0930-343X
Electronic ISSN: 1435-0130
DOI
https://doi.org/10.1007/s00238-014-0937-5

Other articles of this Issue 6/2014

European Journal of Plastic Surgery 6/2014 Go to the issue

Case Report

Successive uneventful pregnancies immediately following bilateral TRAM flap harvest

Letter to the Editor

Umbilical port site keloid extending through rectus sheath

Original Paper

Breast reconstruction by tissue expander after radiotherapy: When the skin does not expand, the rib cage is at risk

Letter to the Editor

An untreated benign lesion: digital dermatofibroma with lysis on phalanx

Original Paper

Is dermatome shaving a potential treatment for actinic keratosis in organ transplant recipients? A cross-sectional study

Original Paper

Titanium-coated polypropylene mesh (TiLoop Bra®)—an effective prevention for capsular contracture?