Research highlight

Variants associated with cleft lip with or without cleft palate

Nature Genetics

December 21, 2009

Two common genetic variants that are associated with non-syndromic cleft lip which occurs with or without cleft palate (NSCL/P) have been identified in this week's issue of Nature Genetics.

Clefts are gaps in structures of the body that result from the incomplete fusion of those structures during development. Cleft lip and cleft palate are common birth defects that occur within the range of 1 in 700 to 1 in 1000 births worldwide, and are correctable by carrying out surgery that connects the incomplete structures.

Elisabeth Mangold and colleagues scanned the genomes of several hundred cases of NSCL/P and found two new genetic variants on chromosome 17q22 and chromosome 10q25 that confer higher risk of developing NSCL/P. Combined with previous work, there are now 4 four known common susceptibility loci for NSCL/P.

doi: 10.1038/ng.506

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