A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

• Published in: PloS one Vol. 10; no. 9; p. e0138221
• Main Authors: Liu, Haochen, Ding, Tingting, Zhan, Yuan, Feng, Hailan
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 25-09-2015; Public Library of Science (PLoS)
• Subjects: Adult; Amino Acid Substitution; Anodontia - genetics; Axin Protein - genetics; Child; Dental occlusion; Deoxyribonucleic acid; DNA; Families & family life; Female; Genes; Genetic engineering; Humans; Male; Mastication; Missense mutation; Molars; Mutation; Mutation, Missense; Parents & parenting; Pedigree; Protein Structure, Tertiary; Proteins; Teeth; Beijing China; China
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0138221

Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations have been association with oligodontia. In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non-syndromic oligodontia. This mutation results in the substitution of Val at residue 105 for Gly (p.Val105Gly); residue 105 is located in the highly conserved regulator of G protein signaling (RGS) domain of the AXIN2 protein. This is the first report indicating that a mutation in the RGS domain of AXIN2 is responsible for non-syndromic oligodontia. Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.