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- Title
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
- Authors
Leslie, E.J.; Koboldt, D.C.; Kang, C.J.; Ma, L.; Hecht, J.T.; Wehby, G.L.; Christensen, K.; Czeizel, A.E.; Deleyiannis, F.W.‐B.; Fulton, R.S.; Wilson, R.K.; Beaty, T.H.; Schutte, B.C.; Murray, J.C.; Marazita, M.L.
- Abstract
Van der Woude syndrome ( VWS) is an autosomal dominant malformation syndrome characterized by orofacial clefting ( OFC) and lower lip pits. The clinical presentation of VWS is variable and can present as an isolated OFC, making it difficult to distinguish VWS cases from individuals with non-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24-0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families with mixed types of OFCs and/or autosomal dominant transmission.
- Subjects
INTERFERON regulatory factors; CLEFT lip; GENETIC mutation; VAN der Woude syndrome; GENETIC polymorphisms
- Publication
Clinical Genetics, 2016, Vol 90, Issue 1, p28
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12675