Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation

被引：69

作者：

Jaruga, A. ^{[1
,2
]}

Hordyjewska, E. ^{[1
,2
]}

Kandzierski, G. ^{[3
]}

Tylzanowski, P. ^{[1
,4
]}

机构：

[1] Med Univ Lublin, Dept Biochem & Mol Biol, Lublin, Poland

[2] Postgrad Sch Mol Med, Warsaw, Poland

[3] Med Univ Lublin, Children Orthopaed & Rehabil Dept, Lublin, Poland

[4] Univ Leuven, Dept Dev & Regenerat, Skeletal Biol & Engn Res Ctr, Lab Dev & Stem Cell Biol, Herestr 49, Leuven, Belgium

来源：

CLINICAL GENETICS | 2016年 / 90卷 / 05期

关键词：

CBFA1; Cleidocranial dysplasia; genetics; RUNX2; skeletal disorders; TRANSCRIPTION FACTOR RUNX2; OSTEOBLAST DIFFERENTIATION; CHINESE PATIENTS; FUNCTIONAL-ANALYSIS; MUTATION ANALYSIS; INDIAN HEDGEHOG; BONE; GENE; EXPRESSION; CBFA1;

D O I：

10.1111/cge.12812

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles. Here, we summarize recent knowledge about RUNX2 function, mutations and their phenotypic consequences in patients. Mutation within RUNX2 causes Cleidocranial dysplasia (CCD)

引用

页码：393 / 402

页数：10

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