Singwai Wong1, Haochen Liu1, Baojing Bai2, Huaiguang Chang1, Hongshan Zhao3, Yixiang Wang4, Dong Han5, Hailan Feng6. 1. Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. 2. Department of Prosthodontics, Beijing Stomatology Hospital, Beijing, China. 3. Department of Medical Genetics, Peking University Health Science Center, Beijing, China; Peking University Center for Human Disease Genomics, Peking University Health Science Center, Beijing, China. 4. Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China. 5. Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: donghan@bjmu.edu.cn. 6. Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China. Electronic address: kqfenghl@bjmu.edu.cn.
Abstract
OBJECTIVE: Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia. DESIGN: We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia. RESULTS: We identified two novel missense mutations (Exon 3 c.923C>T and Exon 11 c.2490G>C) in two patients. One mutation (c.923C>T) results in a Thr308Met substitution and the other mutation (c.2490G>C) results in a Met830Ile substitution. CONCLUSIONS: This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
OBJECTIVE:Oligodontia, which is the congenital absence of six or more permanent teeth excluding third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. To date, mutations in EDA, AXIN2, MSX1, PAX9, WNT10A, EDAR, EDARADD, NEMO and KRT 17 are known to associate with non-syndromic oligodontia. The aim of the study was to search for AXIN2 mutations in 96 patients with non-syndromic oligodontia. DESIGN: We performed mutation analysis of 10 exons of the AXIN2 gene in 96 patients with isolated non-syndromic oligodontia. RESULTS: We identified two novel missense mutations (Exon 3 c.923C>T and Exon 11 c.2490G>C) in two patients. One mutation (c.923C>T) results in a Thr308Met substitution and the other mutation (c.2490G>C) results in a Met830Ile substitution. CONCLUSIONS: This is the first report indicating that mutations in AXIN2 are responsible for oligodontia in the Chinese population. Our findings indicate that AXIN2 can be regarded as a candidate gene for mutation detection in individuals with non-syndromic oligodontia in the Chinese population.
Authors: S-W Wong; D Han; H Zhang; Y Liu; X Zhang; M Z Miao; Y Wang; N Zhao; L Zeng; B Bai; Y-X Wang; H Liu; S A Frazier-Bowers; H Feng Journal: J Dent Res Date: 2017-09-14 Impact factor: 6.116
Authors: Janni M Jensen; Anne Skakkebæk; Mette Gaustadness; Mette Sommerlund; Hans Gjørup; Ken Ljungmann; Charlotte K Lautrup; Lone Sunde Journal: Fam Cancer Date: 2021-10-12 Impact factor: 2.446