Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

ABSTRACT:

Background

The low-density lipoprotein receptor-related protein 6 (LRP6) gene is a recently defined gene that is associated with the autosomal-dominant inherited tooth agenesis (TA). In the present study, a family of four generations having TA was recruited and subjected to a series of clinical, genetic, in silico, and in vitro investigations.

Methods

After routine clinical evaluation, the proband was subjected to whole-exome sequencing (WES) to detect the diagnostic variant. Next, in silico structural and molecular dynamics (MD) analysis was conducted on the identified novel missense variant for predicting its intramolecular impact. Subsequently, an in vitro study was performed to further explore the effect of this variant on protein matur

SUBMITTER: Huang YX 

PROVIDER: S-EPMC8292820 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature