Title: 2289 - Identification of a Gene Linked to Ectopic Tooth Eruption


mushriq abid (Presenter)
Kings College london

Paul Sharpe, Kings College london
Martyn Cobourne, King's College London


Objectives: The aim of this study was to identify causal gene mutation(s) responsible for ectopic eruption in patients, using whole exome sequencing (WES) and direct (Sanger) sequencing.

Methods: Four families with ectopic permanent tooth eruption were enrolled in this study and DNA extracted from affected individuals and non-effected family members. A list of filtered exome sequenced genes was tested using expression analysis. Real-time polymerase chain reaction (RT-PCR) was performed in the tissue surrounding the tooth germ including the stellate reticulum, dental follicle and gubernacular cord. In-situ hybridization was used to test the expression of the identified gene(s) on sections of murine mandibular first molar at different stages of tooth development and eruption

Results: After filtering the exome sequencing data, several candidate genes were identified (novel and truncating variants) and a short list of 8 genes generated following RT-PCR. Exome sequencing identified the presence of a novel frameshift insertion mutation in exon 3 of F-box and Leucine Rich repeat protein 7 (FBXL7) in one patient and Sanger sequencing showed the presence of a novel substitution mutation in the same exon for two other patients with ectopic eruption. Digoxigenin-labelled in-situ hybridization showed very specific expression in the gubernacular cord at different stages during tooth development and eruption (Embryonic day (E) 14.5-16.5; Post-natal day (P) 2, 5, 9 and 11).

Conclusions: This is the first study to identify a gene specifically expressed in the gubernacular cord and mutations in which are associated with ectopic tooth eruption.

Student Presenter

This abstract is based on research that was funded entirely or partially by an outside source:
scholarship funded by my country Iraq

Disclosure Statement:
The submitter must disclose the names of the organizations with which any author have a relationship, the nature of the relationship, and the clinical or research area involved. The following is submitted: NONE