Our findings confirmed that genetic variants of IRF6 and the polymorphism located in the 8q24 gene desert are strongly involved in the etiology of facial clefts in the Polish population sample.
Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.
In documented patients from the literature, only 2% of individuals with described pathogenic mutations in the ZIC2 gene (3/171) presented facial clefts, one of them a nasal cleft, while common oral clefts were observed in 27% of individuals (7/26) described with nonpathogenic ZIC2 mutations or presenting a concomitant mutation in another HPE gene.
Sequence analysis of DNA from newborn screening blood spots revealed a single 16 bp substitution in the SUMO-1 regulatory promoter of a patient displaying both oral-facial clefts and ASDs.
As the mechanism by which folic acid and choline supplementation prevents NCL/P is poorly understood, the relationship between 16 polymorphic variants of 12 genes encoding enzymes involved in the metabolism of these two nutrients and the risk of facial clefts was investigated.
Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts.