NDLI: Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Content Provider	Springer Nature Link
Author	Jurkiewicz, Dorota Gliwicz, Dorota Ciara, Elżbieta Gerfen, Jennifer Pelc, Magdalena Piekutowska Abramczuk, Dorota Kugaudo, Monika Chrzanowska, Krystyna Spinner, Nancy B. Krajewska Walasek, Małgorzata
Copyright Year	2014
Abstract	Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94 %) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in a small percent of patients (∼1 %) mutations in the NOTCH2 gene have been described. Both genes are involved in the Notch signaling pathway. To date, over 440 different JAG1 gene mutations and ten NOTCH2 mutations have been identified in ALGS patients. The present study was conducted on a group of 35 Polish ALGS patients and revealed JAG1 gene mutations in 26 of them. Twenty-three different mutations were detected including 13 novel point mutations and six large deletions affecting the JAG1 gene. Review of all mutations identified to date in individuals from Poland allowed us to propose an effective diagnostic strategy based on the mutations identified in the reported patients of Polish descent. However, the distribution of mutations seen in this cohort was not substantively different than the mutation distribution in other reported populations.
Starting Page	329
Ending Page	336
Page Count	8
File Format	PDF
ISSN	12341983
Journal	Journal of Applied Genetics
Volume Number	55
Issue Number	3
e-ISSN	21903883
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-04-20
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Alagille syndrome Diagnostic strategy JAG1 gene JAG1 point mutations Large deletions Life Sciences Animal Genetics and Genomics Human Genetics Microbial Genetics and Genomics Plant Genetics & Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine

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