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Published on: September 19, 2015
Rethinking isolated cleft lip and palate as a syndrome.
Mine Koruyucu1, Yelda Kasimoğlu1, Figen Seymen1
1Department of Pedodontics, School of Dentistry, Istanbul University, Istanbul, Turkey.
Researchers identified a genetic marker associated with cleft lip and palate (CL/P) and other dental anomalies. This finding aids in identifying individuals for gene discovery related to clefts and improving clinical care through genotype-phenotype correlations.
Area of Science:
- Genetics
- Oral Health
- Developmental Biology
Background:
- Cleft lip and palate (CL/P) is a complex condition with known genetic components.
- Dental anomalies such as tooth agenesis, supernumerary teeth, molar incisor hypomineralization, and dental caries are independently associated with CL/P.
Purpose of the Study:
- To leverage associated dental conditions to broaden the identification of individuals for gene discovery related to clefts.
- To investigate genetic associations between CL/P and specific dental anomalies.
Main Methods:
- A cohort of 1573 DNA samples was analyzed, including individuals with CL/P and various dental conditions.
- Two single-nucleotide polymorphisms (SNPs) near regions implicated in supernumerary teeth were genotyped.
- Allele overrepresentation was assessed in combined and individual phenotypic groups.
Main Results:
- The allele C of rs622260 was significantly overrepresented in the total cohort compared to controls.
- Specific associations were observed within subgroups, notably in individuals with molar incisor hypomineralization.
Conclusions:
- CL/P may be viewed as a broader syndrome of dental alterations, facilitating genotype-phenotype correlation discovery.
- This approach holds potential for improving clinical care strategies for individuals with CL/P and related dental conditions.
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