Ontology highlight
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 + 7delinsTGGTC) mutation, respectively.Conclusion
The candidate gene approach can be successfully used to identify the genetic etiology of the AI in some cases with characteristic clinical features.Clinical relevance
Identification of the genetic etiology of the AI will help both the family members and dentist understand the nature of the disorder. Characteristic clinical feature can suggest possible genetic causes.
SUBMITTER: Kim YJ
PROVIDER: S-EPMC6378126 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Kim Youn Jung YJ Seymen Figen F Kang Jenny J Koruyucu Mine M Tuloglu Nuray N Bayrak Sule S Tuna Elif Bahar EB Lee Zang Hee ZH Shin Teo Jeon TJ Hyun Hong-Keun HK Kim Young-Jae YJ Lee Sang-Hoon SH Hu Jan J Simmer James J Kim Jung-Wook JW
Clinical oral investigations 20180817 3
<h4>Objective</h4>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.<h4>Materials and methods</h4>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.<h4>Results</h4>The candidat ...[more]