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Evaluating rare coding variants as contributing causes to non‐syndromic cleft lip and palate
Journal article   Open access   Peer reviewed

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

E J Leslie and J C Murray
Clinical genetics, Vol.84(5), pp.496-500
11/2013
DOI: 10.1111/cge.12018
PMCID: PMC3788862
PMID: 22978696
url
https://doi.org/10.1111/cge.12018View
Published (Version of record) Open Access

Abstract

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.
 cleft lip cleft palate candidate gene sequencing

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