Published in:
01-11-2019 | Scientific Letter
Van der Woude Syndrome: IRF6 Mutations
Authors:
Ansa P. Sunny, Gautham Arunachal, Sumita Danda
Published in:
Indian Journal of Pediatrics
|
Issue 11/2019
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Excerpt
To the Editor: Van der Woude syndrome (VWS) (OMIM #119300) is the most common cause of syndromic cleft-lip (CL) and cleft-palate (CP) and is inherited as an autosomal dominant disorder [
1]. One of the causative genes for VWS,
IRF6 (Interferon regulator factor 6), belongs to a family of transcription factors and is located on chromosome1q32.2 [
2]. Previous studies from India mention lack of mutations in the coding region of
IRF6 and state that
IRF6 mutations are not the major cause of VWS among certain Indian populations [
3,
4]. We report here 2 familial cases of VWS syndrome from Tamilnadu having mutations in exon 3 of
IRF6. …
