scholarly journals IRF6 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Irf6 Gene

Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population

2011 ◽  
Vol 155 (9) ◽  
pp. 2302-2307 ◽  
Author(s):  
Iman Salahshourifar ◽  
Wan Azman Wan Sulaiman ◽  
Bin Alwi Zilfalil ◽  
Ahmad Sukari Halim
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Irf6 Gene ◽  
Malay Population

Coding Region of IRF6 Gene May Not Be Causal for Van Der Woude Syndrome in Cases from India

2009 ◽  
Vol 46 (5) ◽  
pp. 541-544 ◽  
Author(s):  
Akhtar Ali ◽  
Subodh Kumar Singh ◽  
Rajiva Raman
Keyword(s):  
Present Report ◽  
Direct Sequencing ◽  
Geographical Area ◽  
Point Mutations ◽  
Coding Region ◽  
Van Der Woude Syndrome ◽  
Coding Regions ◽  
Irf6 Gene ◽  
Novel Variants ◽  
History Of

Objective: Evaluation of the IRF6 gene in Van der Woude syndrome cases from an Indian population. Subjects: Nine affected and four unaffected individuals from seven families with Van der Woude syndrome as well as five normal controls (with no history of Van der Woude or any other congenital malformation and belonging to the same geographical area as the families with Van der Woude syndrome). Method: Direct sequencing of all coding regions and exon-intron boundaries of the IRF6 gene. Results: Five novel variants: IVS1+3900 A>G, 191 T>C, IVS4+775 C>T, IVS8+218 C>T, 1511 T>A (Ser 416 Arg) and two known variants: IVS6+27 C>G, 1083 G>A (V274I) were detected. Except for one, all were in noncoding regions either in 3′UTR or in introns. There was only one mutation in the coding region, detected in a normal control. Conclusion: The present report indicates that point mutations in the coding region of the IRF6 gene may not be a major cause of Van der Woude syndrome in Indian populations.

scholarly journals Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate

2010 ◽  
Vol 128 (4) ◽  
pp. 401-410 ◽  
Author(s):  
Tao Wu ◽  
Kung Yee Liang ◽  
Jacqueline B. Hetmanski ◽  
Ingo Ruczinski ◽  
Margaret Daniele Fallin ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Environment Interaction ◽  
Multivitamin Supplementation ◽  
Gene Environment Interaction ◽  
Irf6 Gene ◽  
Gene Environment

scholarly journals Detection of Single Nucleotide Polymorphism rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate

2019 ◽  
Vol 3 (1) ◽  
pp. 28-40
Author(s):  
Husnain Shehzad ◽  
Osheen Shehzad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Melting Curve ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Pakistani Population ◽  
Irf6 Gene ◽  
High Resolution Melting Curve ◽  
Hardy Weinberg Equilibrium

Abstract: Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate. Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified by using Real time PCR and products were investigated by visualizing high resolution melting curve upon HRM-PCR. Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with non-syndromic CL/P. Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further study is required with larger sample size to validate the findings of the present study in Pakistani population and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association with the non-syndromic CL/P.

Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome

2005 ◽  
Author(s):  
Xiao-Qian Ye ◽  
Hui-Xi Jin ◽  
Li-Song Shi ◽  
Ming-Wen Fan ◽  
Guang-Tai Song ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Van Der Woude Syndrome ◽  
Chinese Families ◽  
Irf6 Gene

A Novel IRF6 Frameshift Mutation in a Large Chinese Pedigree With Van der Woude syndrome

2021 ◽  
pp. 105566562110109
Author(s):  
Qi Peng ◽  
Wenyan Qin ◽  
Siping Li ◽  
Meihua Huang ◽  
Chunbao Rao ◽  
...  
Keyword(s):  
Stop Codon ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Premature Stop Codon ◽  
Chinese Family ◽  
The Novel ◽  
Protein Alignment ◽  
Van Der Woude Syndrome ◽  
Psychological Burden ◽  
Irf6 Gene

Aims: Van der Woude syndrome (VWS) is one of the most common craniofacial anomalies, causing significant functional and psychological burden to the patients. This study aimed to identify the genetic cause of VWS in a Chinese family. Methods: Whole genome sequencing (WGS) was performed to screen for pathogenic mutations. Various Bioinformatics tools were used to assess the pathogenicity of the variants. Cosegregation analysis of the candidate variant was carried out. Interpretation of variants was performed according to the American College of Medical Genetics and Genomics guidelines. Results: A novel frameshift duplication c.373_374dupAA (p.Asn125Lys fs*43) was identified in exon 4 of the interferon regulatory factor 6 (IRF6) gene in all 3 affected members, which were not found in unaffected family members. The novel mutation leads to a frameshift and a premature stop codon which caused putative truncated protein. Protein alignment indicated high evolutionary conservation of the p.N125 residue, and this mutation was predicted by online tools to be damaging and deleterious. Conclusions: This study demonstrates that the novel mutation c.373_374dupAA (p.Asn125Lysfs*43) in the IRF6 gene corresponds to the VWS in this family. The discovery of this pathogenic variant enriches the genotypic spectrum of IRF6 gene and contributes to genetic diagnosis and counseling of families with VWS.

Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

2004 ◽  
Vol 351 (8) ◽  
pp. 769-780 ◽  
Author(s):  
Theresa M. Zucchero ◽  
Margaret E. Cooper ◽  
Brion S. Maher ◽  
Sandra Daack-Hirsch ◽  
Buena Nepomuceno ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Gene Variants ◽  
Regulatory Factor ◽  
Irf6 Gene ◽  
Interferon Regulatory Factor 6

scholarly journals Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting

2015 ◽  
Vol 52 (5) ◽  
pp. 161-167 ◽  
Author(s):  
Agnieszka Charzewska ◽  
Ewa Obersztyn ◽  
Dorota Hoffman-Zacharska ◽  
Jacek Lenart ◽  
Jarosław Poznański ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Orofacial Clefting ◽  
Irf6 Gene
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