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Case Reports in Genetics
Volume 2018, Article ID 1369413, 3 pages
https://doi.org/10.1155/2018/1369413
Case Report

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome

1Department of Genetics, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
2Department of Transplantation, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
3Unidad de Investigación en Reproducción Humana, Instituto Nacional de Perinatología Isidro Espinosa de los Reyes-Facultad de Química, Universidad Nacional Autónoma de México, Mexico City, Mexico
4Department of Pathology, Hospital Infantil de México Federico Gómez, Mexico City, Mexico

Correspondence should be addressed to Verónica Fabiola Morán-Barroso; xm.moc.oohay@osorrabnaromaloibafacinorev

Received 1 March 2018; Revised 30 April 2018; Accepted 22 May 2018; Published 25 June 2018

Academic Editor: Balraj Mittal

Copyright © 2018 Alejandra del Pilar Reyes-de la Rosa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age. Sequencing analysis of the JAG1 gene revealed the novel heterozygous mutation c.91dupG that originates a truncated protein and therefore a possibly diminished activation of the Notch signaling pathway. The latter may explain the severe phenotype of the patient. Since the mutation was not identified in the parents, it was considered a de novo event, highlighting the importance of molecular diagnosis and genetic counseling. In conclusion, this report widens the spectrum of JAG1 gene mutations associated with Alagille syndrome.