Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications

被引:45
作者
Al-Qattan, Mohammad M.
Abou Al-Shaar, Hussam
机构
[1] King Saud Univ, Div Plast Surg & Hand Surg, Riyadh, Saudi Arabia
[2] Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia
关键词
Holt-Oram syndrome; Missense mutation; TBX5; Pathogenesis; NUCLEAR-LOCALIZATION; CONDUCTION SYSTEM; HEART; CLASSIFICATION; DOMAIN; EXPRESSION; AGENESIS; DEFECTS; FAMILY;
D O I
10.1016/j.gene.2015.02.017
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
This paper reviews the molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications. First, we review all previously reported cases with these mutations, and then describe the pathogenesis of the clinical features in the heart and upper limb. Special emphasis is given to 'non-classic' upper limb features which are known to occur with these mutations. Finally, the molecular basis of other concurrent anomalies (chest wall, craniofacial, vertebral, and lung anomalies) is reviewed. (C) 2015 Elsevier B.V. All rights reserved.
引用
收藏
页码:129 / 136
页数:8
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