ArticleAmerican journal of human genetics2011
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.
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Who cites it
92 citing papers in PubMed, 161 citations in OpenAlex.
- An investigation of dental anomalies in individuals with amelogenesis imperfecta.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2026Article
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.Biochemical genetics · 2026Article
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.Cell proliferation · 2026Article
- Comprehensive Analysis of the Putative Substratome of FAM20C, the Master Serine Kinase of the Secretory Pathway.Biomolecules · 2025Article
- Article
- Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.Human mutation · 2025Article
- Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.PloS one · 2025Article
- Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.Head & face medicine · 2024Article
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- Article
- FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.International endodontic journal · 2023Article
- Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Organoids from mouse molar and incisor as new tools to study tooth-specific biology and development.Stem cell reports · 2023Article
- NovelJournal of personalized medicine · 2023Article
- Case report: Enamel renal syndrome: a case series from sub-Saharan Africa.Frontiers in oral health · 2023Article
- Article
- The phosphorylation of serineMatrix biology : journal of the International Society for Matrix Biology · 2022Article
- A RecurrentChildren (Basel, Switzerland) · 2022Article
- Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view.Frontiers in physiology · 2022Article
32 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified a homozygous nonsense mutation in exon 2 of FAM20A that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. Expression analyses indicated that Fam20a is expressed in ameloblasts and gingivae, providing biological plausibility for mutations in FAM20A underlying the pathogenesis of this syndrome.
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