ArticleJournal of human genetics2017
Periodontal disease and FAM20A mutations.
Article in Journal of human genetics, 2017. 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, 25 citations in OpenAlex.
- Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.Clinical advances in periodontics · 2026Article
- A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.Upsala journal of medical sciences · 2024Article
- Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Phenotypic and Functional Alterations of Immune Effectors in Periodontitis; A Multifactorial and Complex Oral Disease.Journal of clinical medicine · 2021Article
- Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.Frontiers in endocrinology · 2021Article
- FAM20C directly binds to and phosphorylates Periostin.Scientific reports · 2020Article
- Aggressive periodontitis and NOD2 variants.Journal of human genetics · 2020Article
- Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome.Frontiers in cell and developmental biology · 2020Article
- Transcriptome analysis of gingival tissues of enamel-renal syndrome.Journal of periodontal research · 2019Article
- Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.eLife · 2017Article
- Enamel Renal Syndrome: A Systematic Review.Indian journal of nephrologyReview
- The ABCs of the atypical Fam20 secretory pathway kinases.The Journal of biological chemistryReview
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Authors and funding
9 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis. The other had a novel homozygous missense mutation in exon 10, mild gingival fibromatosis and renal calcifications. The periodontitis in our patients may be a syndrome component, and similar findings in previous reports suggest more than coincidence. Fam20a is an allosteric activator that increases Fam20c kinase activity. It is hypothesized that lack of FAM20A activation of FAM20C in our patients with FAM20A mutations might have caused amelogenesis imperfecta, abnormal bone remodeling and periodontitis. Nephrocalcinosis appears not to be a consistent finding of the syndrome and the missense mutation may correlate with mild gingival fibromatosis. Here we report three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity.
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