A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.

TitleA biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Publication TypeJournal Article
Year of Publication2018
AuthorsDinckan, N, Du, R, Akdemir, ZC, Bayram, Y, Jhangiani, SN, Doddapaneni, H, Hu, J, Muzny, DM, Guven, Y, Aktoren, O, Kayserili, H, Boerwinkle, E, Gibbs, RA, Posey, JE, Lupski, JR, Uyguner, ZO, Letra, A
JournalAm J Med Genet A
Date Published2018 Apr
KeywordsAlleles, Amino Acid Substitution, Animals, Anodontia, Child, Consanguinity, Exome Sequencing, Facies, Genetic Association Studies, Genotype, Humans, Male, Mice, Microfilament Proteins, Mutation, Neoplasm Proteins, Pedigree, Phenotype, Radiography, Receptors, Cell Surface

Tooth development is regulated by multiple genetic pathways, which ultimately drive the complex interactions between the oral epithelium and mesenchyme. Disruptions at any time point during this process may lead to failure of tooth development, also known as tooth agenesis (TA). TA is a common craniofacial abnormality in humans and represents the failure to develop one or more permanent teeth. Many genes and potentially subtle variants in these genes contribute to the TA phenotype. We report the clinical and genetic impact of a rare homozygous ANTXR1 variant (c.1312C>T), identified by whole exome sequencing (WES), in a consanguineous Turkish family with TA. Mutations in ANTXR1 have been associated with GAPO (growth retardation, alopecia, pseudoanodontia, and optic atrophy) syndrome and infantile hemangioma, however no clinical characteristics associated with these conditions were observed in our study family. We detected the expression of Antxr1 in oral and dental tissues of developing mouse embryos, further supporting a role for this gene in tooth development. Our findings implicate ANTXR1 as a candidate gene for isolated TA, suggest the involvement of specific hypomorphic alleles, and expand the previously known ANTXR1-associated phenotypes.

Alternate JournalAm J Med Genet A
PubMed ID29436111
PubMed Central IDPMC5933053
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
R03 DE024596 / DE / NIDCR NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States

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