Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Consequences of JAG1 mutations.

B M Kamath1, L Bason, D A Piccoli

  • 1Division of Gastroenterology, The Children's Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

Journal of Medical Genetics
|December 20, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Conserved Ductular Reaction Mechanisms in Biliary Atresia and Primary Sclerosing Cholangitis Derived From Single-Cell and Spatial Transcriptomics.

Cellular and molecular gastroenterology and hepatology·2026
Same author

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

American journal of medical genetics. Part A·2018
Same author

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

Clinical genetics·2015
Same author

Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome.

Clinical genetics·2015
Same author

Meeting report: consensus recommendations for a research agenda in exercise in solid organ transplantation.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014
Same author

Differing effects of rapamycin or calcineurin inhibitor on T-regulatory cells in pediatric liver and kidney transplant recipients.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2012
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

Alagille syndrome (AGS) shows variable expressivity. Jagged1 (JAG1) mutation carriers may have mild or no symptoms, highlighting the need for genetic counseling in AGS families.

Area of Science:

  • Genetics
  • Medical Genetics
  • Syndromology

Background:

  • Alagille syndrome (AGS) is a multi-system, autosomal dominant disorder.
  • Mutations in the Jagged1 (JAG1) gene cause AGS.
  • AGS exhibits highly variable expressivity.

Purpose of the Study:

  • To determine the frequency of clinical findings in JAG1 mutation carriers within AGS families.
  • To understand the phenotypic spectrum of AGS in relatives of probands.

Main Methods:

  • Studied 53 mutation-positive relatives of 34 AGS probands.
  • Ascertained the frequency of clinical findings in JAG1 mutation carriers.

Main Results:

  • 21% of mutation carriers met AGS diagnostic criteria.

Related Experiment Videos

  • 32% had mild AGS features upon targeted evaluation.
  • 47% did not meet clinical criteria; 4% had no AGS features.
  • Cardiac and liver disease were less frequent in relatives than probands.
  • Characteristic AGS facies had the highest penetrance.

    • Conclusions:

    • Findings have implications for genetic counseling in AGS and JAG1 mutation families.
    • Highlights the variable expressivity and penetrance of AGS.
    • Informs diagnosis and management strategies for AGS.