PTH1R基因突变导致原发性牙齿萌出障碍的研究进展  

Research progress on primary failure of tooth eruption caused by PTH1R gene mutation

作　　者：查蕴宸 余岳霖 李舒舒[2] 孔卫东[2] Zha Yunchen;Yu Yuelin;Li Shushu;Kong Weidong(School of Stomatology Jinan University,Guangzhou 510632,China;Hospital of Stomatology,the First Affiliated Hospital of Jinan University,Guangzhou 510630,China)

机构地区：[1]暨南大学口腔医学院,广州510632 [2]暨南大学附属第一医院口腔科,广州510630

出　　处：《中华口腔正畸学杂志》2024年第1期35-38,共4页Chinese Journal of Orthodontics

基　　金：暨南大学附属第一医院临床前沿新技术项目(NO.JNU1AF-CFTP-2022-a01229)。

摘　　要：原发性牙齿萌出障碍是一类导致牙列开的罕见病,患者无明显局部和全身发病因素,疾病主要与牙齿的萌出机制异常有关。近年来国内外学者研究发现,原发性牙齿萌出障碍为常染色体显性遗传病,编码甲状旁腺激素Ⅰ型受体的基因异常是引起原发性牙齿萌出障碍发生的主要原因。本文就有关PTH1R基因突变导致原发性牙齿萌出障碍的研究进展进行简要概述。Primary failure of tooth eruption(PFE)is a rare disorder that causing open bites.with no apparent local or systemic factors.The disorder primarily stems from abnormal tooth eruption mechanisms.Recent researches,both domestic and international,has identified PFE as having autosomal dominant inheritance.The pathogenic gene associated with PEE is the parathyroid hormone receptor type 1(PTH1R),which plays a crucial role in the onset and progression of PFE.This paper provides a summary of the research progress regarding the relationship between PFE phenotypes and PTH1R genes.

关 键 词：原发性牙齿萌出障碍 甲状旁腺激素Ⅰ型受体 动物模型 信号转导 

分 类 号：R781[医药卫生—口腔医学]