Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which a...Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.展开更多
基金supported by the Major International(Regional)Joint Research Project of Ministry of Science and Technology of China(No.2010DFA32260/No.2008DFA31140)National Natural Science Foundation of China(No.81370230)+2 种基金Technology Foundation for Selected Overseas Chinese Scholar of Ministry of Human Resources and Social Security of China(Ping Zhu)Key Technologies Research and Development Program of China(No.2011BAI11B22)Guangdong Province Natural Science Fund(No.S2013010014009)
文摘Background Di George syndrome（DGS） is the most common microdeletion syndrome in humans and a disorder caused by a defect in chromosome 22. Almost 80% of DGS patients manifest congenital heart defects（CHD）, which are highly variable and severe. However, the genetics of CHD in DGS remain elusive. This review concludes that the TBX1 gene plays a critical role in cardiovascular defects, involving many additional genes, such as Six1, Eya1, Fgf8, Fox, and Shh. Concerning the variable manifestations of CHD in DGS,additional modifiers have been shown of involvement, such as Wnt, MOZ, micro RNAs, VEGF, and CRK.Knowledge of the genetics underlying CHD in DGS has the potential to early detection and treatment of this disease.
