Abstract
Cleft of the lip and palate (CL/P) are generally divided in to two groups, isolated cleft palate and cleft with or without cleft palate representing a heterogeneous group of disorders affecting the upper lip and the roof the mouth. Non-syndromic cleft lip and palate incidence is 1 in 700 to 1000 live babies with ethnic and geographic variations. Various independent association and linkage studies using different populations have identified several loci. Numerous genes have been reported in studies demonstration associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factor, growth factor, cell signalling and detoxification metabolisms. Currently, efforts are focussed to identify the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype. In conclusion, the genetic basis of CL/P is still contentious because of genetic complexity of clefting.
Highlights
Cleft lip, with or without cleft palate, is a most challenging congenital malformation with variable phenotype
Cleft lip and palate is more common in boys and cleft palate alone in girls
The study of congenital cleft lip and cleft palate anomalies has been the subject of debate regarding the etiology and mode of transmission [5]
Summary
With or without cleft palate, is a most challenging congenital malformation with variable phenotype. Insights from syndromic clefts Cleft lip or palate can be seen as an associated feature in approximately 300 syndromes Studies on these syndromes had given sufficient clues to identify the genes that cause the non syndromic clefts [17]. Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a semi-dominant X-linked disorder previously described in several large families of different ethnic origins and has been the subject of several studies that localized the causative gene to Xq21. Lymphedemadistichiasis is an autosomal dominant disorder that classically presenting with lymphedema at puberty and distichiasis at birth and some other complications such as cardiac defects, varicose veins, ptosis, cleft palate, spinal extradural cysts, and photophobia [40,41]) This condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein [40,41]. International Journal of Genetics ISSN: 0975–2862 & E-ISSN: 0975–9158, Vol 3, Issue 1, 2011
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