Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis.Many genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinic...Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis.Many genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical presentation.The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients.An 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 records.Additionally,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses.We 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 oligodontia.For each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated.Genotype–phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations,mandibular first premolar agenesis is least associated with PAX9 mutations.展开更多
基金supported by the National Institute of Dental and Craniofacial Research(DE015846)a National Research Foundation of Korea(NRF)grant funded by the Korean government(MEST)(NRF-2018R1A5A2024418 and NRF-2020R1A2C2100543)。
文摘Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis.Many genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical presentation.The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients.An 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 records.Additionally,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses.We 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 oligodontia.For each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated.Genotype–phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations,mandibular first premolar agenesis is least associated with PAX9 mutations.
