title: 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 5.5 cM 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.
authors.affiliation: West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, China. apprehendall@hotmail.com
authors.forename: Hu
authors.initials: H
authors.lastname: Long
authors.forename: Quanzeng
authors.initials: Q
authors.lastname: Liang
authors.forename: Chuanhong
authors.initials: C
authors.lastname: Zhong
authors.forename: Ying
authors.initials: Y
authors.lastname: Jin
mesh_terms: D002681:China; D002874:Chromosome Mapping; D002971:Cleft Lip / Q000235:genetics*; D005492:Folic Acid / Q000235:genetics / Q000378:metabolism* / Q000494:pharmacology; D005796:Genes / Q000187:drug effects; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008957:Models, Genetic; D010453:Peptide Synthases / Q000235:genetics*
chemical_list: D005492:Folic Acid; D010453:Peptide Synthases; C023103:folylpolyglutamate synthetase