Format

Send to

Choose Destination
Am J Med Genet A. 2018 Apr;176(4):1015-1022. doi: 10.1002/ajmg.a.38625. Epub 2018 Feb 13.

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

Author information

1
Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
2
Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.
3
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
4
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
5
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Capa, Istanbul, Turkey.
6
Department of Medical Genetics, School of Medicine, Koc University, Istanbul, Turkey.
7
Human Genetics Center, University of Texas Health Science Center at Houston School of Public Health, Houston, Texas.
8
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
9
Texas Children's Hospital, Houston, Texas.
10
Department of Diagnostic and Biomedical Sciences, University of Texas Health Science Center at Houston School of Dentistry, Houston, Texas.
11
Pediatric Research Center, University of Texas Health Science Center at Houston McGovern Medical School, Houston, Texas.

Abstract

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.

KEYWORDS:

ANTXR1; expression; tooth agenesis; whole exome sequencing

PMID:
29436111
PMCID:
PMC5933053
[Available on 2019-04-01]
DOI:
10.1002/ajmg.a.38625
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center