Alagille syndrome- A rare autosomal dominant disorder

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Alagille syndrome- A rare autosomal dominant disorder

Journal Title: Al Ameen Journal of Medical Sciences - Year 2018, Vol 11, Issue 1

Abstract

Alagille syndrome is a rare autosomal dominant disorder characterized by abnormal development of liver, heart, skeleton, eye, face and, less frequently, kidney [1-2]. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations, most frequently peripheral pulmonary stenosis, ophthalmological abnormalities typically of the anterior chamber with posterior embryotoxon being the most common, skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Jag1 mutations have been identified in 60–70% of ags patients studied, and these include total gene deletions (-6%), protein-truncating mutations (insertions, deletions and nonsense mutations) (82%) and missense mutations (12%) [3-7].

Authors and Affiliations

Rizwan U Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem

Keywords

Alagille syndrome Facial features autosomal dominant disorder

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EP ID EP255304
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