Clinical Oral Investigations

, Volume 23, Issue 3, pp 1481–1487 | Cite as

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta

  • Youn Jung Kim
  • Figen Seymen
  • Jenny Kang
  • Mine Koruyucu
  • Nuray Tuloglu
  • Sule Bayrak
  • Elif Bahar Tuna
  • Zang Hee Lee
  • Teo Jeon Shin
  • Hong-Keun Hyun
  • Young-Jae Kim
  • Sang-Hoon Lee
  • Jan Hu
  • James Simmer
  • Jung-Wook KimEmail author
Original Article



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.


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.


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.


Amelogenesis imperfecta Candidate gene sequencing LAMB3 FAM20A Deletion-insertion mutation Nonsense mutation 



We thank the participants in this study for their cooperation.


This work was supported by grants by the National Research Foundation of Korea (NRF) grant funded by the Korea government (NRF-2017R1A2A2A05069281) and NIDCR/NIH grant DE015846.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study. The study protocol was reviewed and approved by the Institutional Review Board at Seoul National University Dental Hospital (CRI05003G) and at the University of Istanbul (IRB00009905).

Supplementary material

784_2018_2577_MOESM1_ESM.docx (941 kb)
ESM 1 (DOCX 940 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Youn Jung Kim
    • 1
  • Figen Seymen
    • 2
  • Jenny Kang
    • 3
  • Mine Koruyucu
    • 2
  • Nuray Tuloglu
    • 4
  • Sule Bayrak
    • 4
  • Elif Bahar Tuna
    • 2
  • Zang Hee Lee
    • 5
  • Teo Jeon Shin
    • 3
  • Hong-Keun Hyun
    • 3
  • Young-Jae Kim
    • 3
  • Sang-Hoon Lee
    • 3
  • Jan Hu
    • 6
  • James Simmer
    • 6
  • Jung-Wook Kim
    • 1
    • 3
    Email author
  1. 1.Department of Molecular Genetics & Dental Research Institute, School of DentistrySeoul National UniversitySeoulSouth Korea
  2. 2.Department of Pedodontics, Faculty of DentistryIstanbul UniversityIstanbulTurkey
  3. 3.Department of Pediatric Dentistry & Dental Research Institute, School of DentistrySeoul National UniversitySeoulSouth Korea
  4. 4.Department of Pedodontics, Faculty of DentistryEskisehir Osmangazi UniversityEskisehirTurkey
  5. 5.Department of Cell and Developmental Biology & Dental Research Institute, School of DentistrySeoul National UniversitySeoulSouth Korea
  6. 6.Department of Biologic and Materials SciencesUniversity of Michigan Dental Research LabAnn ArborUSA

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