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Analyses of oligodontia phenotypes and genetic etiologies

International Journal of Oral Science 2021年第3期13卷 323-332页

作者： Mengqi Zhou Hong Zhang heather camhi Figen Seymen Mine Koruyucu Yelda Kasimoglu Jung-Wook Kim Hera Kim-Berman Ninna M.R.Yuson Paul J.Benke Yiqun Wu Feng Wang Yaqin Zhu James P.Simmer Jan C-C.Hu Dental Research Laboratory University of Michigan School of DentistryAnn ArborMIUSA Department of Second Dental Center Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina Department of General Dentistry Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina Orthodontic and Pediatric Dentistry University of Michigan School of Dentistry1011N.University AveAnn ArborMIUSA Mott Children’s Health Center 806 Tuuri Place FlintMIUSA Department of Pedodontics Faculty of DentistryIstanbul UniversityIstanbulTurkey Department of Molecular Genetics&Dental Research Institute School of Dentistry Seoul National UniversitySeoulKorea Department of Pediatric Dentistry&Dental Research Institute School of Dentistry Seoul National UniversitySeoulKorea Department of Paediatric Dentistry Women’s and Children’s HospitalNorth AdelaideSAAustralia Department of Medical Genetics Joe DiMaggio Children’s HospitalHollywoodFLUSA Department of Oral Implantology Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineCollege of StomatologyShanghai Jiao Tong UniversityNational Center for StomatologyNational Clinical Research Center for Oral DiseasesShanghai Key Laboratory of StomatologyShanghaiChina

Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth *** genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical *** purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia *** online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation,phenotype description,and radiographic ***,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence *** identified a novel mutation in WNT10A(c.99_105dup)and eight previously reported mutations in WNT10A(c.433 G>A;c.682 T>A;c.318 C>G;c.511.C>T;c.321 C>A),EDAR(c.581 C>T),and LRP6(c.1003 C>T,c.2747 G>T).Collectively,20 different causative genes were implicated among those 393 cases with *** each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were ***–phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations,mandibular first premolar agenesis is least associated with PAX9 mutations.

关键词： clinical congenital likely

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