ArticleMolecular genetics and genomics : MGG2020
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Article in Molecular genetics and genomics : MGG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 30 citations in OpenAlex.
- Craniofacial Morphology and Dental Age Assessment in Pediatric Craniosynostosis: A Comparative Cross-Sectional Study.Clinical and experimental dental research · 2026Article
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.Cell proliferation · 2026Article
- Expert consensus on the diagnosis and management of tooth developmental anomalies.International journal of oral science · 2026Review
- Salivary Proteomic Signatures Reveal Novel Mechanistic Insights into Moderate Dental Fluorosis Pathogenesis and Oral Homeostasis Disruption.Computational and structural biotechnology journal · 2026Article
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.Current biology : CB · 2025Article
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).Molecular medicine reports · 2024Review
- A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia.Scientific reports · 2024Article
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.Scientific reports · 2024Article
- Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Review
- Case report: Enamel renal syndrome: a case series from sub-Saharan Africa.Frontiers in oral health · 2023Article
- Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view.Frontiers in physiology · 2022Article
- Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes.Frontiers in dental medicine · 2022Article
- Enamel Renal Syndrome: Protocol for a Scoping Review.JMIR research protocols · 2021Article
- Enamel renal gingival syndrome in Indian scenario: A systematic review.Medical journal, Armed Forces IndiaReview
- The ABCs of the atypical Fam20 secretory pathway kinases.The Journal of biological chemistryReview
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7 authors at 2 institutions in 1 country.
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Abstract
Amelogenesis imperfecta type IG (AI1G) is caused by mutations in FAM20A. Genotypic and phenotypic features of AI1G are diverse and their full spectra remain to be characterized. The aim of this study was to identify and summarize variants in FAM20A in a broad population of patients with AI1G. We identified a Thai female (Pt-1) and a Saudi male (Pt-2) affected with AI1G. Both had hypoplastic enamel, gingival hyperplasia, and intrapulpal calcification. Pt-1 also had rapidly progressive embedding of unerupted teeth, early eruption of permanent teeth, and spontaneous dental infection. Uniquely, Pt-2 had all permanent teeth erupted which was uncommon in AI1G patients. Whole exome sequencing (WES) identified that Pt-1 was heterozygous for FAM20A, c.758A > G (p.Tyr253Cys), inherited from her father. The mutation on maternal allele was not detected by WES. Pt-2 possessed compound heterozygous mutations, c.1248dupG (p.Phe417Valfs*7); c.1081C > T (p.Arg361Cys) in FAM20A. Array comparative genomic hybridization (aCGH), cDNA sequencing, and whole genome sequencing successfully identified 7531 bp deletion on Pt-1's maternal allele. This was the largest FAM20A deletion ever found. A review of all 70 patients from 50 independent families with AI1G (including two families in this study) showed that the penetrance of hypoplastic enamel and gingival hyperplasia was complete. Unerupted permanent teeth were found in all 70 patients except Pt-2. Exons 1 and 11 were mutation-prone. Most mutations were frameshift. Certain variants showed founder effect. To conclude, this study reviews and expands phenotypic and genotypic spectra of AI1G. A large deletion missed by WES can be detected by WGS. Hypoplastic enamel, gingival hyperplasia, and unerupted permanent teeth prompt genetic testing of FAM20A. Screening of nephrocalcinosis, early removal of embedded teeth, and monitoring of dental infection are recommended.
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