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New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes.
Machado, Renato Assis; de Andrade, Rodrigo Soares; Pêgo, Sabina Pena Borges; Krepischi, Ana Cristina Victorino; Coletta, Ricardo D; Martelli-Júnior, Hercílio.
Afiliación
  • Machado RA; Department of Oral Diagnosis, School of Dentistry, University of Campinas (FOP/UNICAMP), Piracicaba, São Paulo, Brazil.
  • de Andrade RS; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.
  • Pêgo SPB; Department of Oral Diagnosis, School of Dentistry, University of Campinas (FOP/UNICAMP), Piracicaba, São Paulo, Brazil.
  • Krepischi ACV; Stomatology Clinic, Dental School, State University of Montes Claros (Unimontes), Montes Claros, Minas Gerais, Brazil.
  • Coletta RD; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo (IB/USP), São Paulo, Brazil.
  • Martelli-Júnior H; Department of Oral Diagnosis, School of Dentistry, University of Campinas (FOP/UNICAMP), Piracicaba, São Paulo, Brazil.
J Periodontol ; 94(1): 108-118, 2023 01.
Article en En | MEDLINE | ID: mdl-35665929
BACKGROUND: Hereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non-hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21-p22, 2p22.3-p23.3, 4q12, 5q13-q22, and 11p15) and three genes [REST (RE1-silencing transcription factor), SOS1 (Son-of-Sevenless-1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF. Here, our study aimed to identify genetic variants associated with HGF by applying whole-exome sequencing (WES) and bioinformatics analyses. METHODS: Thirteen Brazilian individuals with HGF and nine relatives without HGF from four unrelated families were chosen for our investigation. Blood collected from the patients and their relatives were used for WES. Five Web-available tools, namely, CADD, PolyPhen, SIFT, Mutation Taster, and Franklin's algorithms, were used to predict protein damage. RESULTS: WES revealed pathogenic variants affecting the known HGF genes REST (c.1491_1492delAG) and SOS1 (c.3265_3266insTAAC) in two families. Additionally, potentially pathogenic variants segregating in the other two families were mapped to ALK receptor tyrosine kinase gene (ALK) (c.361C > T) and to collagen type I receptor and thrombospondin receptor gene (CD36) (c.1133G > T). CONCLUSION: Our findings reinforce the high genetic heterogeneity of HGF, identifying new variants in HGF known genes (REST and SOS1) and ALK and CD36 as new genes that cause HGF.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Heterogeneidad Genética / Fibromatosis Gingival Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Periodontol Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Heterogeneidad Genética / Fibromatosis Gingival Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Periodontol Año: 2023 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos