SUMMARY: Nonsyndromic cleft lip with/without palate is associated with a genetic variant in a long, noncoding region of the genome.
DESCRIPTION: Nonsyndromic cleft lip with/without palate (NSCL/P) is one of the most common human birth defects. The term nonsyndromic indicates that these defects are not associated with any other abnormalities or symptoms besides those directly caused by the condition. This condition occurs when the tissue that forms the lip does not completely join while a palate is when tissues that form the roof of the mouth do not join together. This study examined 2,573 individuals from a Chinese population to identify genetic variants associated with NSCL/P. It found one significant variant in a long noncoding region of the genome.
DID YOU KNOW? Surgery can often successfully treat this NSCL/P if done within a year of birth. The risk of this birth defect can be decreased by taking folic acid and not drinking or smoking during pregnancy. [SOURCE]
SAMPLE RESULTS: Learn more about the Nebula Research Library.
CLEFT LIP-ASSOCIATED VARIANTS: rs2262251
WEEKLY UPDATE: July 23, 2019