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Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation

Published online by Cambridge University Press:  23 January 2015

Victoria C. Ziesenitz ,
Tsvetomir Loukanov ,
Christiane Gläser  and
Matthias Gorenflo
Victoria C. Ziesenitz
Affiliation:
Department of Pediatric and Congenital Cardiology, University Hospital Heidelberg, Heidelberg, Germany
Tsvetomir Loukanov
Affiliation:
Department of Cardiac Surgery, University Hospital Heidelberg, Heidelberg, Germany
Christiane Gläser
Affiliation:
Institute of Human Genetics, Halle, Germany
Matthias Gorenflo*
Affiliation:
Department of Pediatric and Congenital Cardiology, University Hospital Heidelberg, Heidelberg, Germany
*
Correspondence to: Prof. Dr med. M. Gorenflo, Department of Pediatric and Congenital Cardiology, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120 Heidelberg, Germany. Tel: +49-6221-56-4606; Fax: +49-6221-56-5790; E-mail: Matthias.Gorenflo@med.uni-heidelberg.de
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Abstract

We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient’s sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome.

Keywords

Alagille syndrometetralogy of Fallotabsent pulmonary valveJAG1Notch signalling
Type
Brief Reports
Information
Cardiology in the Young , Volume 26 , Issue 1 , January 2016 , pp. 164 - 167
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Copyright
© Cambridge University Press 2015 

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References

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