Int J Stomatol ›› 2022, Vol. 49 ›› Issue (5): 600-606.doi: 10.7518/gjkq.2022086

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Research progress on the gene family with sequence similarity 83 member H related to autosomal dominant hypocalcified amelogenesis imperfecta and its mutation

Guo Simin1(),Chen Ting1,2()   

  1. 1.School of Stomatology, Southern Me-dical University, Guangzhou 510515, China
    2.Dept. of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China
  • Received:2021-11-25 Revised:2022-03-02 Online:2022-09-01 Published:2022-09-16
  • Contact: Ting Chen E-mail:980281492@qq.com;chent@smu.edu.cn
  • Supported by:
    National Natural Science Foundation of China(81800950)

Abstract:

Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) is a genetic disorder characterized by abnormal enamel formation. The enamel matrix is formed normally but without apparent mineralization. The ADHCAI has evident clinical and genetic heterogeneity. The affected tooth’s enamel thickness is normal however, the surface hardness is reduced, thus affecting the tooth’s function and aesthetics. Family with sequence similarity 83 member H (FAM83H) is a member of family with sequence similarity 83. It is widely expressed in a variety of human tissues and cells including ameloblasts, odontoblasts, and alveolar bone. It encodes an intracellular protein that is associated with keratin cytoskeleton and desmosomes, playing a role in intracellular molecular transport, cytoskeletal network regulation, and enamel formation. Various mutations have been identified in the FAM83H gene that leads to ADHCAI in different populations. In recent years, several studies explored the relationship between mutations in FAM83H and the occurrence and development of ADHCAI from multiple perspectives, such as vesicle trafficking and cytoskeletal organization. In this review, we will focus on the research progress on the gene FAM83H related to ADHCAI and its mutation.

Key words: autosomal dominant hypocalcified amelogenesis imperfecta, family with sequence similarity 83 member H, truncation mutation

CLC Number: 

  • R 780.2

TrendMD: 

Tab 1

Researched FAM83 mutation associated with ADHCAI"

编号cDNA蛋白质家系口腔临床表现

全景片

表现

首次发表的

作者及年份

萌出前釉质厚度萌出后釉质磨损的程度萌出后釉质质地

牙齿

颜色

有无前牙开??对热刺激敏感程度釉质放射密度与牙本质接近
1c.973C>Tp.R325*韩国-++柔软*+++*Kim等[8](2008)
2c.1192C>Tp.Q398*韩国-++柔软*+++*
3c.1243G>Tp.E415*西班牙-+++柔软浅黄色*++*Lee等[10](2008)
4c.891T>Ap.Y297*亚洲人-+++柔软浅黄色*++*
5c.1380G>Ap.W460*白种人-+++柔软浅黄色*++*
6c.2029C>Tp.Q677*白种人-+++柔软浅黄色*++*
7c.1330C>Tp.Q444*土耳其*******Hart 等[11](2009)
8c.1366C>Tp.Q456*土耳其*******
9c.1354C>TpQ452*韩国-++柔软棕色*+*Hyun等[12](2009)
10c.1408C>Tp.Q470*白种人*******Wright等[13](2009)
11c.860C>Ap.S287*白种人*******
12c.1379G>Ap.W460*白种人*******
13c.2080G>Tp.E694*白种人*******
14c.923_924delTCp.L308fs*323白种人*******
15c.1872_1873delCCp.L625fs*703白种人*******
16c.1374C>Ap.Y458*欧洲人*++柔软黄色*+++EL-Sayed等[14](2010)
17c.906T>Ap.Y302*丹麦-++柔软黄棕色+*+Haubek等[15](2011)
18c.1354C>Tp.Q452*丹麦-++柔软黄棕色+*+
19c.906T>Gp.Y302*中国*++柔软淡黄色-++*Song等[16](2012)
20c.924dupTp.V309Rfs*324中国*++柔软黄棕色-++*
21c.1354C>TpQ452*中国*++柔软黄棕色-++*
22c.2029 C>Tp.Q677*中国*++柔软黄棕色-++*
23c.1669G>Tp.Gly557Cys智利-+++柔软黄棕色*+++Urzúa等[9](2015)
24c.1387C>Tp.Gln463X;泰国-+++柔软黄黑色+++*Kantaputra等[17](2016)
25c.1369C>Tp.Gln457*土耳其-+++柔软黄棕色**+Wang等[3](2016)
26c.1915A>Tp.Lys639*台湾-+++柔软黄棕色+*+
27c.931dupCp.V311Rfs*13中国*+++柔软黄棕色***Wang等[18](2017)
28c.1130_1131delinsAAp.S377X中国-++柔软黄棕色**+
29c.1147G > Tp.E383X中国*+++*深棕色+**
30c.1261G>Tp.E421*泰国-+++*黄棕色**+Nowwarote等[5](2018)
31c.1222A>Tp.K408X中国*+++柔软黑棕色+*+Yu等[19](2018)
32c.1309_1311delinsTAAp.His437*台湾-+++*深棕色**+Wang等[20](2021)
33c.1375C>Tp.Gln459*白种人*+++*黄棕色**+
34c.1828G>Tp.Glu610*台湾*+++*黑棕色***
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