Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I.
Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I.
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DOI：
10.3389/fgene.2021.699278
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发表时间：
2021
影响因子：
3.7
通讯作者：
Yan W
中科院分区：
文献类型：
--
作者：
Zeng Y;Pan Y;Mo J;Ling Z;Jiang L;Xiong F;Yan W
背景：成骨不全(OI)是一种临床遗传性疾病，主要由编码I型前胶原的COL1A1或COL1A2基因突变引起，可导致骨脆性、骨质疏松症和牙本质形成不全(DGI)。病例报告：应用全外显子测序技术发现COL1A1基因外显子22的错义突变(C.1463G>；C)。然而，本文报道的病例仅表现为临床DGI-I表型。没有骨病或任何其他由COL1A1突变引起的常见异常症状的病例。此外，对非综合征DGI-I患牙的超微结构分析显示，牙本质异常伴随着成牙本质细胞极化的破坏，成牙本质细胞数量减少，硬度和弹性降低，牙本质小管丢失，提示严重的发育障碍。我们还研究了从DGI-I患者分离和培养的牙髓干细胞(DPSCs)向成牙本质细胞分化的能力。从DGI-I患者中分离的干细胞对于阐明其发病机制和开发再生治疗的潜在机制非常重要。结论：本研究可为胶原相关疾病的表型-基因关联提供新的认识，提高OI/DGI-I的临床诊断水平。
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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