Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Akhtar AliRajiva Raman

Abstract

Evaluation of the IRF6 gene in Van der Woude syndrome cases from an Indian population. 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). Direct sequencing of all coding regions and exon-intron boundaries of the IRF6 gene. 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. 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.

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Citations

Nov 4, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Subodh Kumar Singh
Jan 13, 2015·Genetics Research·Dinesh S ManjegowdaNallur B Ramachandra
Sep 17, 2010·European Journal of Pediatrics·Gayatri A Moghe, Simratvir Mauli
Oct 5, 2016·Human Genetics·M PhanC E L Carels
Aug 31, 2019·Indian Journal of Pediatrics·Ansa P SunnySumita Danda

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