Alagille syndrome with a previously undescribed mutation.
BACKGROUND
Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies.


METHODS
An 8-year old child with persisting jaundice, severe itching and failure to thrive.


METHODS
Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biopsy showing bile duct paucity. Genetic analysis revealed a novel de novo mutation in the JAG 1 gene.


RESULTS
The child was started on ursodeoxycholic acid following which the itching improved.


CONCLUSIONS
A novel de novo mutation in JAG 1 gene is described in this child with Alagille Syndrome.
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi. Correspondence to: Dr Vidyut Bhatia, Indraprastha Apollo Hospital, New Delhi 110 076, India. drvidyut@me.com.
Vidyut
V
Bhatia
Pawan
P
Kumar
D016738:Alagille Syndrome / Q000175:diagnosis / Q000235:genetics; D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D000072099:Serrate-Jagged Proteins
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins