Blanca Urzúa1, Carolina Martínez2, Ana Ortega-Pinto3, Daniela Adorno4, Irene Morales-Bozo5, Gonzalo Riadi6, Lilian Jara7, Anita Plaza8, Claudia Lefimil9, Carla Lozano10, Monserrat Reyes11. 1. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: brurzua@gmail.com. 2. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: carolina_aml@yahoo.com. 3. Department of Pathology and Oral Medicine, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: aveortega@gmail.com. 4. Department of Pathology and Oral Medicine, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: daniadorno@gmail.com. 5. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: irenemoralesbozo@gmail.com. 6. Center of Bioinformatics and Molecular Simulations, CBSM, Faculty of Engineering, University of Talca, 2 norte Ave. N° 685, Talca, Chile. Electronic address: griadi@gmail.com. 7. Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Independencia Ave. N° 1027, Santiago, Chile. Electronic address: ljara@med.uchile.cl. 8. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: anitaplazaflores@yahoo.com. 9. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: claulefi@gmail.com. 10. Institute for Research in Dental Sciences, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: carlalozan@gmail.com. 11. Department of Pathology and Oral Medicine, Faculty of Dentistry, University of Chile, Sergio Livingstone Ave. N° 943, Independencia, Santiago, Chile. Electronic address: montserrat.reyes.r@gmail.com.
Abstract
OBJECTIVE: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three Chilean families and identify causal mutations in the FAM83H gene. DESIGN: The diagnosis was made using clinical, radiographic, histological and genealogical data from the patients, who were evaluated according to the classification criteria by Witkop. PCR and Sanger sequencing of the complete coding sequence and surrounding intron regions of the FAM83H gene were conducted. The structural study of the affected teeth was performed with light microscopy, scanning electron microscopy and immunohistochemistry. RESULTS: The probands of the three families were diagnosed with hypocalcified AI, but in only one of them the missense variant p.Gly557Cys was identified. This variant was not present in the SNP database or in 100 healthy controls and segregated with the disease in the affected family. Using light microscopy, a normal prismatic structure was observed in all three cases. However, the ultrastructure was found to be affected in two of the cases, showing persistence of organic matter including amelogenins. CONCLUSIONS: These results suggest that FAM83H missense mutation reported in one of the families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin.
OBJECTIVE:Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three Chilean families and identify causal mutations in the FAM83H gene. DESIGN: The diagnosis was made using clinical, radiographic, histological and genealogical data from the patients, who were evaluated according to the classification criteria by Witkop. PCR and Sanger sequencing of the complete coding sequence and surrounding intron regions of the FAM83H gene were conducted. The structural study of the affected teeth was performed with light microscopy, scanning electron microscopy and immunohistochemistry. RESULTS: The probands of the three families were diagnosed with hypocalcified AI, but in only one of them the missense variant p.Gly557Cys was identified. This variant was not present in the SNP database or in 100 healthy controls and segregated with the disease in the affected family. Using light microscopy, a normal prismatic structure was observed in all three cases. However, the ultrastructure was found to be affected in two of the cases, showing persistence of organic matter including amelogenins. CONCLUSIONS: These results suggest that FAM83H missense mutation reported in one of the families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin.
Authors: Kyoung Min Kim; Usama Khamis Hussein; Jun Sang Bae; See-Hyoung Park; Keun Sang Kwon; Sang Hoon Ha; Ho Sung Park; Ho Lee; Myoung Ja Chung; Woo Sung Moon; Myoung Jae Kang; Kyu Yun Jang Journal: Front Oncol Date: 2019-01-22 Impact factor: 6.244
Authors: Shih-Kai Wang; Yuanyuan Hu; Charles E Smith; Jie Yang; Chunhua Zeng; Jung-Wook Kim; Jan C-C Hu; James P Simmer Journal: Mol Genet Genomic Med Date: 2019-05-06 Impact factor: 2.183
Authors: Ae-Ri Ahn; Sang Jae Noh; Usama Khamis Hussein; Ho Sung Park; Myoung Ja Chung; Ho Lee; Woo Sung Moon; Myoung Jae Kang; Hyung Jin Kim; Na Ri Lee; Kyu Yun Jang; Kyoung Min Kim Journal: BMC Urol Date: 2021-10-08 Impact factor: 2.264
Authors: Theresa Tachie-Menson; Ana Gázquez-Gutiérrez; Luke J Fulcher; Thomas J Macartney; Nicola T Wood; Joby Varghese; Robert Gourlay; Renata F Soares; Gopal P Sapkota Journal: Cell Signal Date: 2020-04-11 Impact factor: 4.315