An insight into genetics of non-syndromic cleft palate

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 ...

Molecular Genetics of Non-syndromic Cleft Palate and Van Derwoude Syndrome

(2001) Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. (2001) Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. (2003) Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (2003) Linkage and linkage disequilibrium searched between non-syndromic cleft ...

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

Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.

Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/...

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 ...