Journal
FRONTIERS IN GENETICS
Volume 12, Issue -, Pages -Publisher
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2021.699278
Keywords
dentin; type I collagen; missense mutation; odontoblasts; case report
Categories
Funding
- Natural Science Foundation of Guangdong Province of China [2018A0303130213, 2018B030311033]
- Clinical Research Startup Program of Southern Medical University by High-level University Construction Funding of Guangdong Provincial Department of Education [LC2016PY023]
- Clinical Research Program of Nanfang Hospital Southern Medical University [2018CR018]
- President Funding of Nanfang Hospital, China [2019Z018]
- National Natural Science Foundation of China [31970558]
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A missense mutation in the COL1A1 gene was found to cause a DGI-I phenotype without bone disease, with ultrastructural analysis revealing severe developmental disorder. The use of patient DPSCs for research can help elucidate pathogenesis and develop regenerative therapies.
Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen. Case Report: A missense mutation (c.1463G > C) in exon 22 of the COL1A1 gene was found using whole-exome sequencing. However, the cases reported herein only exhibited a clinical DGI-I phenotype. There were no cases of bone disease or any other common abnormal symptom caused by a COL1A1 mutation. In addition, the ultrastructural analysis of the tooth affected with non-syndromic DGI-I showed that the abnormal dentine was accompanied by the disruption of odontoblast polarization, a reduced number of odontoblasts, a reduction in hardness and elasticity, and the loss of dentinal tubules, suggesting a severe developmental disorder. We also investigated the odontoblast differentiation ability using dental pulp stem cells (DPSCs) that were isolated from a patient with DGI-I and cultured. Stem cells isolated from patients with DGI-I are important to elucidate their pathogenesis and underlying mechanisms to develop regenerative therapies. Conclusion: This study can provide new insights into the phenotype-genotype association in collagen-associated diseases and improve the clinical diagnosis of OI/DGI-I.
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