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17.08.2018 | Original Article

Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta

verfasst von: 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 Kim

Erschienen in: Clinical Oral Investigations | Ausgabe 3/2019

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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.

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Titel: Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta
verfasst von: 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 Kim
Publikationsdatum: 17.08.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Clinical Oral Investigations / Ausgabe 3/2019
Print ISSN: 1432-6981
Elektronische ISSN: 1436-3771
DOI: https://doi.org/10.1007/s00784-018-2577-9

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Abstract

Objective

Materials and methods

Results

Conclusion

Clinical relevance

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