Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.
Congenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance. Haploinsufficiency of the Jagged1 (JAG1) gene has been shown to cause AGS. Abdominal coarctation is an uncommon vascular congenital anomaly which has been described only three times in AGS. Recently, expression of the Jagged1 gene has been found in the developing heart and in multiple associated vascular structures, including the descending aorta. Mutation analysis of the Jagged1 gene in this fourth reported patient with coarctation of the abdominal aorta in AGS and right subclavian stenosis identified a mutation deletion (1485 Del CT). This agrees with the Jagged1 expression studies and suggests that coarctation of aorta may be a component of AGS.
Raas-Rothschild
Annick
A
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel. annick@hadassah.org.il
Shteyer
Eyal
E
Lerer
Israela
I
Nir
Amiram
A
Granot
Esther
E
Rein
Azaria J J T
AJ
D016738:Alagille Syndrome / Q000235:genetics* / Q000473:pathology; D001012:Aorta, Abdominal / Q000002:abnormalities* / Q000473:pathology; D001017:Aortic Coarctation / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002135:Calcium-Binding Proteins; D004247:DNA; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D000072100:Jagged-1 Protein; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D011506:Proteins; D000072099:Serrate-Jagged Proteins; D004247:DNA