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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: [email protected]
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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

1. Turnpenny, PD, Ellard, S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet 2012; 20: 251–257.CrossRefGoogle ScholarPubMed
2. Lu, F, Morrissette, JJ, Spinner, NB. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. Am J Hum Genet 2003; 72: 1065–1070.Google Scholar
3. McElhinney, DB, Krantz, ID, Bason, L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002; 106: 2567–2574.CrossRefGoogle ScholarPubMed
4. de la Pompa, JL, Epstein, JA. Coordinating tissue interactions: Notch signaling in cardiac development and disease. Dev Cell 2012; 22: 244–254.Google Scholar
5. High, FA, Lu, MM, Pear, WS, et al. Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development. Proc Natl Acad Sci USA 2008; 105: 1955–1959.Google Scholar
6. Warthen, DM, Moore, EC, Kamath, BM, et al. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 2006; 27: 436–443.Google Scholar
7. Guegan, K, Stals, K, Day, M, Turnpenny, P, Ellard, S. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clin Genet 2012; 82: 33–40.CrossRefGoogle ScholarPubMed
8. Eldadah, ZA, Hamosh, A, Biery, NJ, et al. Familial tetralogy of Fallot caused by mutation in the Jagged1 gene. Hum Mol Genet 2001; 10: 163–169.CrossRefGoogle ScholarPubMed
9. Glaeser, C, Kotzot, D, Caliebe, A, et al. Gene symbol: JAG1. Disease: tetralogy of Fallot. Hum Genet 2006; 119: 674.Google ScholarPubMed
10. Alsoufi, B, Williams, WG, Hua, Z, et al. Surgical outcomes in the treatment of patients with tetralogy of Fallot and absent pulmonary valve. Eur J Cardiothorac Surg 2007; 31: 354–359; (discussion 359).CrossRefGoogle ScholarPubMed