Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

ABSTRACT:

Background

Tooth agenesis (TA) is a congenital abnormality that may present as syndromic or nonsyndromic. Considering its complex genetic aetiology, the aim of this study was to uncover the pathogenic mutants in patients with nonsyndromic TA and analyse the characteristics of these mutants.

Methods

Exome sequencing was performed to detect pathogenic variants in 72 patients from 43 unrelated families with nonsyndromic TA. All candidate variants were validated using Sanger sequencing. Bioinformatics and conformational analyses were performed to determine the pathogenic mechanisms of the mutants.

Results

The following eight mutations (six novel and two known) in six genes were identified in eight families: WNT10A [c.742C > T (p.R248*)], LRP6 [c.1518G > A (p.W506*),

SUBMITTER: Yue H 

PROVIDER: S-EPMC9544223 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature