Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate.

Recently, we reported a whole genome scan in sib pairs with non-syndromic cleft lip and palate (CLP), highlighting several regions as possible susceptibility loci, one of which is situated on 1p36. This region is of particular interest in CLP as it harbours the gene encoding MTHFR, an enzyme fundamental in the metabolism of the biologically active form of folic acid. Dietary folic acid deficien...

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.

Clefts of the lip and/or palate (CL/P) are among the most common birth defects worldwide. The majority are non-syndromic where CL/P occurs in isolation of other phenotypes. Where one or more additional features are involved, clefts are referred to as syndromic. Collectively CL/P has a major clinical impact requiring surgical, dental, orthodontic, speech, hearing and psychological treatments or ...

Impaired FGF signaling contributes to cleft lip and palate.

Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced th...

Application of Genetic Analyses in Studies of Syndromic and Non-syndromic Cleft Lip and Palate

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the ...