JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

doi:10.1111/j.1399-0004.2011.01749.x

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Article

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Clinical genetics - 1 Jul 2012

Guegan K, Stals K, Day M, Turnpenny P, Ellard S

Abstract excerpt

Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in...

Topics

Adult
Alagille Syndrome
Calcium-Binding Proteins
DNA Mutational Analysis
Female
Genetic Testing
Heterozygote
Humans
Infant, Newborn
Intercellular Signaling Peptides and Proteins
Jagged-1 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Membrane Proteins

Mutation Rate

Phenotype

Polymorphism, Genetic

Receptor, Notch2

Serrate-Jagged Proteins

Source

Open in PubMed

Identifiers

PMID: 21752016
DOI: 10.1111/j.1399-0004.2011.01749.x

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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