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Year : 2020  |  Volume : 28  |  Issue : 3  |  Page : 176-179

Novel mutations with clinical variability and surgical experience in van der woude syndrome

1 Department of Medical Genetics, Ankara City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Turkey
2 Department of Plastic, Reconstructive, and Aesthetic Surgery, Faculty of Medicine, Hacetepe University, Ankara, Turkey

Correspondence Address:
Prof. Ibrahim Vargel
Department of Plastic, Reconstructive, and Aesthetic Surgery, Faculty of Medicine, Hacetepe University, Ankara
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjps.tjps_2_20

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Introduction: Van der Woude syndrome (VWS) is characterized by cleft palate, cleft lip, and lower-lip pits. Interferon regulatory factor 6 (IRF6) gene mutations have been reported as the cause of VWS. Subjects and Methods: Full stories of the affected individuals were obtained, and a pedigree analysis that goes back three-generation pedigree was performed. The IRF6 gene Sanger sequence analysis was performed on 43 affected individuals with ages ranging between 1 month and 84 years. Results: Our report comprises the molecular diagnosis of 43 patients with VWS in six different families. The c.841-2A>C mutation and the c.881T>A mutation are novel and have not been reported before. These novel mutations affect exon 7 of the IRF6 gene. Conclusion: The c.841-2A>C mutation is a splice site mutation, which is less common in the IRF6 gene and helps us understand the genomic structure better. A novel c.881T>A mutation was identified in exon 7. Due to variable expression, the same mutation can present itself in different clinical manifestations. However, different mutations in the same gene can also be observed through different phenotypes. Therefore, the clinical manifestations of new mutations can lead us to a better understanding of the causes of the disease. In addition, knowing the molecular cause of the disease is also useful for the surgical interventions.

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