ArticleClinical oral investigations2019
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta.
Article in Clinical oral investigations, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- RecessiveJournal of personalized medicine · 2023Article
- Rare compound heterozygous variants ofFrontiers in physiology · 2022Article
- The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.Clinical oral investigations · 2021Article
- Transcriptome analysis of gingival tissues of enamel-renal syndrome.Journal of periodontal research · 2019Article
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Authors and funding
15 authors at 5 institutions in 5 countries.
Funding
Abstract
objectiveAmelogenesis 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
methodsWe 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.
resultsThe 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.
conclusionThe 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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