Review
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World J Med Genet. Nov 27, 2014; 4(4): 94-104
Published online Nov 27, 2014. doi: 10.5496/wjmg.v4.i4.94
Role of SOX2 in foregut development in relation to congenital abnormalities
Kim Schilders, Joshua K Ochieng, Cornelis P van de Ven, Cristina Gontan, Dick Tibboel, Robbert J Rottier
Kim Schilders, Joshua K Ochieng, Cornelis P van de Ven, Cristina Gontan, Dick Tibboel, Robbert J Rottier, Departments of Pediatric Surgery of The Erasmus MC-Sophia Children’s Hospital, 3000 CA Rotterdam, The Netherlands
Cristina Gontan, The Department of Reproduction and Development of the Erasmus MC, 3015 CN Rotterdam, The Netherlands
Robbert J Rottier, Cell Biology of the Erasmus MC, 3000 CA Rotterdam, The Netherlands
Author contributions: Schilders K, Ochieng JK, Gontan C and Rottier RJ wrote the first draft of the manuscript; van de Ven CP and Tibboel D added all patient information; Schilders K, Tibboel D and Rottier RJ provided critical input and comments; all authors edited the manuscript.
Correspondence to: Robbert J Rottier, PhD, Departments of Pediatric Surgery of The Erasmus MC-Sophia Children’s Hospital, PO Box 2040, 3000 CA Rotterdam, The Netherlands. r.rottier@erasmusmc.nl
Telephone: +31-10-7044140 Fax: +31-10-7044468
Received: May 28, 2014
Revised: July 14, 2014
Accepted: September 4, 2014
Published online: November 27, 2014
Abstract

The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two systems, the gas exchange pulmonary system and the gastro-intestinal feeding system, are derived from the same primitive embryonic structure during development, the foregut, which need to be separated before birth. In certain newborns, this separation occurs not or insufficiently, leading to life threatening conditions, sometimes incompatible with life. The development of the foregut, trachea and lungs is influenced and coordinated by a multitude of signaling cascades and transcription factors. In this review, we will highlight the development of the foregut and pulmonary system and focus on associated congenital abnormalities in light of known genetic alterations with specific attention to the transcription factor SOX2.

Keywords: SOX2, Congenital foregut abnormalities, Lung development

Core tip: Foregut abnormalities are complicated congenital diseases which still lack knowledge of the origin. This review highlights foregut development and associated abnormalities, specifically focussing on the transcription factor SOX2.