Restivo Angelo, Sarkozy Anna, Digilio Maria Cristina, Dallapiccola Bruno, Marino Bruno
Department of Paediatrics, University of Rome La Sapienza, Italy.
J Cardiovasc Med (Hagerstown). 2006 Feb;7(2):77-85. doi: 10.2459/01.JCM.0000203848.90267.3e.
The morphology and molecular genetics of the 22q11 deletion syndrome cardiovascular anomalies are reviewed. Special emphasis is given to TBX1, recently identified and considered to be the potential key gene for this clinical syndrome. The TBX1 downstream molecular pathways modulating the normal development of the pharyngeal apparatus are also discussed, and emphasis is given to the possible, equally fundamental role of downstream molecular pathway disruption in causing the clinical 22q11 deletion phenotype features.
本文综述了22q11缺失综合征心血管异常的形态学和分子遗传学。特别强调了TBX1，它是最近被鉴定出来并被认为是该临床综合征潜在关键基因的。文中还讨论了调节咽器官正常发育的TBX1下游分子途径，并强调了下游分子途径破坏在导致22q11缺失临床表型特征方面可能同样重要的作用。
