Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2
| Autor: | Hong-Keun Hyun, Youn Jung Kim, Jung-Wook Kim, Zang Hee Lee, Jae-Cheoun Lee, Yejin Lee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Candidate gene COL1A2 Dentinogenesis imperfecta Medicine (miscellaneous) Biology medicine.disease_cause Article 03 medical and health sciences Exon 0302 clinical medicine Dentin sialophosphoprotein stomatognathic system discoloration medicine isolated dentin defect tooth dentinogenesis imperfecta Genetics Mutation Dentin dysplasia 030206 dentistry medicine.disease mutational hotspot Collagen type I alpha 2 stomatognathic diseases 030104 developmental biology Osteogenesis imperfecta Medicine hereditary |
| Zdroj: | Journal of Personalized Medicine, Vol 11, Iss 526, p 526 (2021) Journal of Personalized Medicine Volume 11 Issue 6 |
| ISSN: | 2075-4426 |
| Popis: | Hereditary dentin defects can be categorized as a syndromic form predominantly related to osteogenesis imperfecta (OI) or isolated forms without other non-oral phenotypes. Mutations in the gene encoding dentin sialophosphoprotein (DSPP) have been identified to cause dentinogenesis imperfecta (DGI) Types II and III and dentin dysplasia (DD) Type II. While DGI Type I is an OI-related syndromic phenotype caused mostly by monoallelic mutations in the genes encoding collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2). In this study, we recruited families with non-syndromic dentin defects and performed candidate gene sequencing for DSPP exons and exon/intron boundaries. Three unrelated Korean families were further analyzed by whole-exome sequencing due to the lack of the DSPP mutation, and heterozygous COL1A2 mutations were identified: c.3233G> A, p.(Gly1078Asp) in Family 1 and c.1171G> A, p.(Gly391Ser) in Family 2 and 3. Haplotype analysis revealed different disease alleles in Families 2 and 3, suggesting a mutational hotspot. We suggest expanding the molecular genetic etiology to include COL1A2 for isolated dentin defects in addition to DSPP. |
| Databáze: | OpenAIRE |
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