scholarly journals Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome

1998 ◽  
Vol 22 (4) ◽  
Author(s):  
Coletta
Keyword(s):  
Novel Mutations ◽  
Van Der Woude Syndrome ◽  
Irf6 Gene

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

Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome

2010 ◽  
Vol 21 (5) ◽  
pp. 1654-1656 ◽  
Author(s):  
Anna Paola Scioletti ◽  
Francesco Brancati ◽  
Valentina Gatta ◽  
Ivana Antonucci ◽  
Bernard Peissel ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Van Der Woude Syndrome ◽  
Irf6 Gene

scholarly journals Novel mutations of IRF6 gene in Taiwanese Van der Woude syndrome patients

2019 ◽  
Vol 60 (2) ◽  
pp. 218-220 ◽  
Author(s):  
Tzu-Jou Wang ◽  
Kai-Shen Hsieh ◽  
Jui-Pin Lai ◽  
Meng-Han Tsai ◽  
Yi-Chih Liang ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Van Der Woude Syndrome ◽  
Irf6 Gene

Novel mutations in the IRF6 gene for Van der Woude syndrome

2003 ◽  
Vol 113 (5) ◽  
pp. 382-386 ◽  
Author(s):  
Xiaofang Wang ◽  
Jiali Liu ◽  
Haibing Zhang ◽  
Mingzhen Xiao ◽  
Jinfeng Li ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Van Der Woude Syndrome ◽  
Irf6 Gene

Three novel mutations of theIRF6gene with one associated with an unusual feature in Van der Woude syndrome

2009 ◽  
Vol 149A (11) ◽  
pp. 2489-2492 ◽  
Author(s):  
Patra Yeetong ◽  
Charan Mahatumarat ◽  
Pichit Siriwan ◽  
Nond Rojvachiranonda ◽  
Kanya Suphapeetiporn ◽  
...  
Keyword(s):  
Unusual Feature ◽  
Novel Mutations ◽  
Van Der Woude Syndrome

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.

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.

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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