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

被引：4
|
作者：
Ziesenitz, Victoria C. [1 ]
Loukanov, Tsvetomir [2 ]
Glaeser, Christiane [3 ]
Gorenflo, Matthias [1 ]
机构：
[1] Univ Heidelberg Hosp, Dept Pediat & Congenital Cardiol, D-69120 Heidelberg, Germany
[2] Univ Heidelberg Hosp, Dept Cardiac Surg, D-69120 Heidelberg, Germany
[3] Inst Human Genet, Halle, Germany
来源：
CARDIOLOGY IN THE YOUNG | 2016年 / 26卷 / 01期
关键词：
Alagille syndrome; tetralogy of Fallot; absent pulmonary valve; JAG1; Notch signalling; JAGGED1; TETRALOGY; FALLOT;
D O I：
10.1017/S1047951114002753
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：164 / 167
页数：4
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