Affiliation:
1. Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry Chulalongkorn University Bangkok Thailand
2. Oral Biology Research Center, Faculty of Dentistry Chulalongkorn University Bangkok Thailand
3. Dental Materials R&D Center, Faculty of Dentistry Chulalongkorn University Bangkok Thailand
4. Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand
5. Excellence Center for Genomics and Precision Medicine King Chulalongkorn Memorial Hospital, The Thai Red Cross Society Bangkok Thailand
Abstract
AbstractObjectivesTo identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI).MethodsThree patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing. An unerupted permanent third molar (AI1) from Patient1 and a deciduous first molar (AI2) from Patient2, along with three tooth‐type matched controls for each were characterized.ResultsAll three patients harbored biallelic pathogenic variants in FAM20A, indicating AI1G. Of the four identified variants, one, c.1231C > T p.(Arg411Trp), was novel. Patient1 possessed the largest deletion, 7531 bp, ever identified in FAM20A. In addition to hypoplastic enamel, multiple impacted teeth, intrapulpal calcification, pericoronal radiolucencies, malocclusion, and periodontal infections were found in all three patients, gingival hyperplasia in Patient1 and Patient2, and alveolar bone exostosis in Patient3. Surface roughness was increased in AI1 but decreased in AI2. Decreased enamel mineral density, hardness, and elastic modulus were observed in AI1 enamel and dentin and AI2 dentin, along with decreased phosphorus, increased carbon, and increased calcium/phosphorus and carbon/oxygen ratios. Severely collapsed enamel rods and disorganized dentin–enamel junction were observed.ConclusionsWe report a novel FAM20A variant and, for the first time, the defective mineral composition and physical/mechanical properties of AI1G teeth.
Funder
Chulalongkorn University
Health Systems Research Institute
National Research Council of Thailand
Subject
General Dentistry,Otorhinolaryngology
Cited by
5 articles.
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