Rethinking isolated cleft lip and palate as a syndrome
| Autor: | Adriana Modesto, Kathleen Deeley, Merve Bayram, Yelda Kasimoglu, Nihan Ergöz, Mine Koruyucu, Elif Bahar Tuna, Diego Girotto Bussaneli, Koray Gençay, Alexandre R. Vieira, Figen Seymen, Asli Patir |
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| Přispěvatelé: | Istanbul University, Istanbul Medipol University, University of Pittsburgh School of Dental Medicine, Universidade Estadual Paulista (Unesp), Koruyucu, Mine, Kasimoglu, Yelda, Seymen, Figen, Ergoz, Nihan, Tuna, Elif B., Gencay, Koray Istanbul Univ, Sch Dent, Dept Pedodont, Istanbul, Turkey, Bayram, Merve, Patir, Asli Istanbul Medipol Univ, Sch Dent, Dept Pedodont, Istanbul, Turkey, Deeley, Kathleen, Bussaneli, Diego, Modesto, Adriana, Vieira, Alexandre R. Univ Pittsburgh, Sch Dent Med, Dept Oral Biol, 412 Salk Pavil, Pittsburgh, PA 15261 USA, Bussaneli, Diego UNESP, Dept Pediat Dent, Araraquara, Brazil, Vieira, Alexandre R. Univ Pittsburgh, Sch Dent Med, Dept Pediat Dent, Pittsburgh, PA USA, Girotto Bussaneli, Diego -- 0000-0001-9078-7385 |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Genotype Cleft Lip Munoglobulin Tooth Abnormality Immunoglobulins Dentistry Nerve Tissue Proteins Dental Caries Polymorphism Single Nucleotide Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine HMCN1 Protein Human stomatognathic system Humans Medicine Radiology Nuclear Medicine and imaging Dentistry (miscellaneous) Supernumerary Clinical care Allele Alleles Nerve Protein Dentition Tooth Abnormalities business.industry IGSF9 Protein Humanim Syndrome 030206 dentistry Molar Incisor Hypomineralization Cleft Palate stomatognathic diseases Phenotype 030104 developmental biology Dental Anomalies Female Surgery Tooth agenesis Oral Surgery business |
| Zdroj: | Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| ISSN: | 2212-4403 |
| Popis: | Made available in DSpace on 2018-12-11T16:52:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-04-01 Objective: The 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 design: We studied 1573 DNA samples combining individuals that were born with CL/P or had tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries with the goal to identify genetic associations. We tested 2 single-nucleotide polymorphisms that were located in the vicinity of regions suggested to contribute to supernumerary teeth. Overrepresentation of alleles were determined for combinations of individuals as well as for each individual phenotypic group with an α of.05. Results: We determined that the allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of the conditions described earlier. When subgroups were tested, associations were found for individuals with hypomineralization. Conclusions: Although we did not test this hypothesis directly in the present study, 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. Department of Pedodontics School of Dentistry Istanbul University Department of Pedodontics School of Dentistry Istanbul Medipol University Department of Oral Biology University of Pittsburgh School of Dental Medicine Department of Pediatric Dentistry UNESP Department of Pediatric Dentistry University of Pittsburgh School of Dental Medicine Department of Pediatric Dentistry UNESP |
| Databáze: | OpenAIRE |
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