Rethinking isolated cleft lip and palate as a syndrome

Publication date: Available online 31 January 2018
Source:Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Author(s): Mine Koruyucu, Yelda Kasimoğlu, Figen Seymen, Merve Bayram, Asli Patir, Nihan Ergöz, Elif B. Tuna, Koray Gencay, Kathleen Deeley, Diego Bussaneli, Adriana Modesto, Alexandre R. Vieira
ObjectiveThe goal of the present work was to use dental conditions that have been independently associated with cleft lip and palate (CL/P) as a tool to identify a broader collection of individuals to be used for gene identification that lead to clefts.Study designWe studied 1,573 DNA samples combining individuals that were born with CL/P, or had tooth agenesis, or supernumerary teeth, or molar incisor hypomineralization (MIH), or dental caries with the goal to identify genetic associations. We tested two single nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Over-representation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an alpha of 0.05.ResultsWe determined that the allele C of rs622260 was over-represented in all individuals studied when compared with a group of unrelated individuals that did not present any of the conditions described above. When subgroups were tested, associations were seen for individuals with MIH.ConclusionsAlthough we did not test this hypothesis directly here, based on associations reported previously, we believe that CL/P is actually a syndrome of alterations of the dentition and considering it that way may allow for the identification of genotype-phenotype correlations that may be useful for clinical care.



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