title: A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.
abstract: 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.
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Haochen
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Ding
authors.affiliation: The Third Dental Center, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Zhan
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Hailan
authors.initials: H
authors.lastname: Feng
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D000848:Anodontia / Q000235:genetics*; D060466:Axin Protein / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017434:Protein Structure, Tertiary
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein