ArticleJournal of periodontal research2019
Transcriptome analysis of gingival tissues of enamel-renal syndrome.
Article in Journal of periodontal research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.Cell proliferation · 2026Article
- Enamel Renal Syndrome: A Case Report.Cureus · 2024Article
- Article
- Bridging the gap between omics research and dental practice.BDJ open · 2024Review
- A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.Upsala journal of medical sciences · 2024Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.International endodontic journal · 2023Article
- Regulation of secretory pathway kinase or kinase-like proteins in human cancers.Frontiers in immunology · 2023Review
- Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.Frontiers in endocrinology · 2021Article
- Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome.Frontiers in cell and developmental biology · 2020Article
- The ABCs of the atypical Fam20 secretory pathway kinases.The Journal of biological chemistryReview
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
objectiveBiallelic loss-of-function mutations of human FAM20A have been known to cause enamel-renal syndrome (ERS), featured by agenesis of dental enamel, nephrocalcinosis, and other orodental abnormalities, including gingival hyperplasia. However, while the histopathology of this gingival anomaly has been analyzed, its underlying molecular mechanism remains largely unknown. This study aimed to unravel the pathogenesis of gingival hyperplasia in ERS.
methodsWhole-exome sequencing was conducted for an ERS case. Transcriptome analyses, using RNA sequencing, of the patient's gingiva were performed to unravel dysregulated molecules and aberrant biological processes underlying the gingival pathology of ERS, which was further confirmed by histology and immunohistochemistry.
resultsTwo novel frameshift FAM20A mutations in Exon 1 (g.5417delG; c.129delG; p.Cys44Alafs*101) and Exon 5 (g.62248_62249delAG; c.734_735delAG; p.Glu245Glyfs*11) were identified. Transcriptional profiling of patient's gingival tissue revealed a total of 1683 genes whose expression had increased (1129 genes) or decreased (554 genes) at least 2-fold compared to control gingival tissues. There were 951 gene ontology (GO) terms of biological process being significantly over-represented or under-represented. While GOs involved in extracellular matrix organization, angiogenesis, biomineralization, and epithelial cell proliferation appeared to be activated in ERS gingiva, genes related to keratinocyte differentiation, epithelial development, and keratinization were of decreased expression. FAM20A immunohistochemistry revealed a strong reactivity at the suprabasal layers of epithelium in control gingiva but showed a significantly diminished and scattered signal in ERS tissues. For genes showing significant over-expression in the transcriptome analyses, namely ALPL, SPARC, and ACTA2, an increased immunoreactivity was observed.
conclusionOur results unraveled a potential role for FAM20A in homeostasis of both gingival epithelium and connective tissues.
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