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Clin Genet. 2013 Nov;84(5):496-500. doi: 10.1111/cge.12018. Epub 2012 Oct 10.

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

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Department of Pediatrics, University of Iowa, Iowa City, IA, USA.


Rare coding variants are a current focus in studies of complex disease. Previously, at least 68 rare coding variants were reported from candidate gene sequencing studies in non-syndromic cleft lip and palate (NSCL/P), a common birth defect. Advances in sequencing technology have now resulted in thousands of sequenced exomes, providing a large resource for comparative genetic studies. We collated rare coding variants reported to contribute to NSCL/P and compared them to variants identified from control exome databases to determine if some might be rare but benign variants. Seventy-one percentage of the variants described as etiologic for NSCL/P were not present in the exome data, suggesting that many likely contribute to disease. Our results strongly support a role for rare variants previously reported in the majority of NSCL/P candidate genes but diminish support for variants in others. However, because clefting is a complex trait it is not possible to be definitive about the role of any particular variant for its risk for NSCL/P.


candidate gene; cleft lip; cleft palate; sequencing

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