A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
Joint Authors
Vázquez-Martínez, Edgar Ricardo
Cerbón, Marco
Reyes-de la Rosa, Alejandra del Pilar
Varela-Fascinetto, Gustavo
Valencia-Mayoral, Pedro
García-Delgado, C.
Morán-Barroso, V. F.
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-06-25
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Reyes-de la Rosa, Alejandra del Pilar& Varela-Fascinetto, Gustavo& García-Delgado, C.& Vázquez-Martínez, Edgar Ricardo& Valencia-Mayoral, Pedro& Cerbón, Marco…[et al.]. 2018. A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. Case Reports in Genetics،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143282
Modern Language Association (MLA)
Reyes-de la Rosa, Alejandra del Pilar…[et al.]. A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. Case Reports in Genetics No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1143282
American Medical Association (AMA)
Reyes-de la Rosa, Alejandra del Pilar& Varela-Fascinetto, Gustavo& García-Delgado, C.& Vázquez-Martínez, Edgar Ricardo& Valencia-Mayoral, Pedro& Cerbón, Marco…[et al.]. A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome. Case Reports in Genetics. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1143282
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1143282