Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta

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 Turkis...

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Bibliographic Details
Published in:Clinical oral investigations 2019-03, Vol.23 (3), p.1481-1487
Main Authors: Kim, Youn Jung, Seymen, Figen, Kang, Jenny, Koruyucu, Mine, Tuloglu, Nuray, Bayrak, Sule, Tuna, Elif Bahar, Lee, Zang Hee, Shin, Teo Jeon, Hyun, Hong-Keun, Kim, Young-Jae, Lee, Sang-Hoon, Hu, Jan, Simmer, James, Kim, Jung-Wook
Format: Article
Language:English
Subjects:
Amelogenesis imperfecta
Amelogenesis Imperfecta - genetics
Cell Adhesion Molecules - genetics
Codon, Nonsense
Dental enamel
Dental Enamel Proteins - genetics
Dentistry
DNA Mutational Analysis
Etiology
Gene deletion
Homozygote
Humans
INDEL Mutation
Insertion
Kalinin
LAMB3 gene
Medicine
Mutation
Nonsense mutation
Original Article
Pedigree
Sequence Deletion
Teeth
Turkey
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Summary: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.
ISSN:1432-6981
1436-3771
DOI:10.1007/s00784-018-2577-9