Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.

ABSTRACT:

Objective

Amelogenesis imperfecta (AI) is a rare hereditary disorder affecting the quality and quantity of the tooth enamel. The purpose of this study was to identify the genetic etiology of hypoplastic AI families based on the candidate gene approach.

Materials and methods

We recruited three Turkish families with hypoplastic AI and performed a candidate gene screening based on the characteristic clinical feature to find the pathogenic genetic etiology.

Results

The candidate gene sequencing of the LAMB3 gene for family 1 revealed a heterozygous nonsense mutation in the last exon [c.3431C > A, p.(Ser1144*)]. FAM20A gene sequencing for families 2 and 3 identified a homozygous deletion [c.34_35delCT, p.(Leu12Alafs*67)] and a homozygous deletion-insertion (c.1109 + 3_1109

SUBMITTER: Kim YJ 

PROVIDER: S-EPMC6378126 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature