FPGS gene is a novel causative gene for cleft lip in China

Abstract In China, patients with cleft lip tend to be blood group A. Thus, blood group A gene can be viewed as a marker gene for cleft lip. Based on the principle of linkage analysis, we may find a causative gene for cleft lip near blood group A gene. Among those genes that flank blood group A gene, FPGS gene, only 5.5cM apart from blood group A gene, is suspected to be a good candidate causative gene for cleft lip. A normal FPGS gene plays an essential role in intracellular folate homeostasis and metabolism, while a variant FPGS gene would lead to folate disturbances or even folate deficiency. Since folate deficiency has been documented to contribute to cleft lip, the resulting folate deficiency induced by a variant FPGS gene would contribute to cleft lip, further strengthening that FPGS gene is a good candidate causative gene for cleft lip. We therefore propose FPGS gene as a novel causative gene for cleft lip.