Is there a relation between TBX18 and congenital heart defects?

Engwerda, A. (Aafke) (2017) Is there a relation between TBX18 and congenital heart defects? thesis, Medicine.

Text EngwerdaA.pdf Restricted to Registered users only Download (1MB)

Abstract

Background –The gene TBX18 was identified as a candidate gene for congenital heart defects in TBX18 deletion patients in a previous study within the Chromosome 6 Project. In this research clerkship we tried to find a relation between TBX18 haploinsufficiency and congenital heart defects. Methods – A literature review on TBX18 was performed. The literature on TBX18 in humans and animals was compared, because of the strong homology of TBX18 between humans and animals. Subsequently, we derived a ‘TBX18 phenotype profile’ from the clinical data on 18 patients with a chromosome 6 deletion, including TBX18. Based on this profile, 40 patients with comparable heart defects, but without a known genetic cause, were selected for Sanger sequencing of TBX18. Results – The literature review resulted in an overview of what was known about TBX18, such as the expression pattern in the mouse embryonic heart. The Sanger sequencing of TBX18 did not lead to the identification of pathogenic variants in the 40 selected patients. Conclusion – We showed with the literature review that changes in the function of TBX18 might be associated with congenital heart defects. However we did not find confirmation for this relationship by Sanger sequencing of TBX18.

Item Type:	Thesis (Thesis)
Supervisor name:	Ravenswaaij-Arts, Prof. dr. C.M.A. van and Kerstjens-Frederikse, Dr. W.S. and Klinische genetica and Universitair Medisch Centrum Groningen
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:46
Last Modified:	25 Jun 2020 10:46
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/742

Actions (login required)

View Item