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

Cardiol Young. 2016 Jan;26(1):164-7. doi: 10.1017/S1047951114002753. Epub 2015 Jan 23.

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 syndrome; JAG1; Notch signalling; absent pulmonary valve; tetralogy of Fallot.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alagille Syndrome / genetics*
  • Calcium-Binding Proteins / genetics*
  • Child
  • Female
  • Heart Defects, Congenital
  • Humans
  • Infant, Newborn
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Jagged-1 Protein
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Phenotype
  • Serrate-Jagged Proteins
  • Young Adult

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • Serrate-Jagged Proteins