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FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia 

FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia
FOG-2 (now ZFPM2), GATA-4, Congenital Heart Disease, and Diaphragmatic Hernia

Anne M. Slavotinek

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date: 24 February 2021

The nuclear protein Friend of Gata-2 (Fog-2; also known as Zpfm-2; OMIM 603693) is a transcriptional repressor that binds to members of the Gata family of transcription factors. Fog-2 is expressed during early development in murine cardiac, gonadal, and nervous tissues and is critical for normal cardiac and diaphragm development in both humans and mice. Fog-2 interacts strongly with Gata binding protein 4 (Gata-4), and both are required for the normal formation of the heart and diaphragm during embryogenesis. Mutations in GATA-4 and FOG-2 have been identified in individuals with congenital cardiac defects and with diaphragmatic defects, primarily septal defects, Tetralogy of Fallot and pulmonic stenosis, although they account for only a small minority of patients. This chapter provides a review of both genes with an emphasis on their role in congenital heart disease and diaphragmatic defects.

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