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

Noonan syndrome: partial factor XI deficiency.

M de Haan1, J J vd Kamp, E Briët

  • 1Department of Pediatrics, University Hospital Leiden, The Netherlands.

American Journal of Medical Genetics
|February 1, 1988
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

Twelve years of circulatory extracorporeal life support at the University Medical Centre Utrecht.

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·2021
Same author

The role of AIP variants in pituitary adenomas and concomitant thyroid carcinomas in the Netherlands: a nationwide pathology registry (PALGA) study.

Endocrine·2020
Same author

How do farm models compare when estimating greenhouse gas emissions from dairy cattle production?

Animal : an international journal of animal bioscience·2018
Same author

The selective 5-HT6 receptor antagonist SLV has putative cognitive- and social interaction enhancing properties in rodent models of cognitive impairment.

Neurobiology of learning and memory·2016
Same author

Abnormal immune parameters in HIV-seronegative haemophilic patients.

Haemophilia : the official journal of the World Federation of Hemophilia·2016
Same author

The inheritance and molecular genetics of von Willebrand's disease.

Haemophilia : the official journal of the World Federation of Hemophilia·2016
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
See all related articles

Noonan syndrome is linked to a partial deficiency in coagulation factor XI, a protein crucial for blood clotting. This finding may explain the bleeding issues observed in some individuals with this genetic disorder.

Area of Science:

  • Genetics
  • Hematology
  • Pediatric Medicine

Background:

  • Noonan syndrome is a genetic disorder characterized by multiple extracardiac abnormalities.
  • An unexplained bleeding tendency has been anecdotally reported in individuals with Noonan syndrome.
  • Previous research suggested a potential link between Noonan syndrome and partial factor XI deficiency.

Purpose of the Study:

  • To investigate the prevalence of partial factor XI deficiency in patients with Noonan syndrome.
  • To determine if a correlation exists between Noonan syndrome and coagulation factor XI levels.
  • To explore the potential cause of bleeding tendencies in Noonan syndrome patients.

Main Methods:

  • Evaluated 9 patients diagnosed with Noonan syndrome.
  • Assessed coagulation factor XI levels in patients and their parents.

Related Experiment Videos

  • Compared factor XI levels between Noonan syndrome patients and unaffected parents.

    • Main Results:

    • Four out of nine Noonan syndrome patients (44%) exhibited partial factor XI deficiency, with levels ranging from 30-65%.
    • Noonan syndrome patients had a significantly lower mean factor XI level (67%) compared to normal parents (109%).
    • Three parents, two of whom also had Noonan syndrome, were included in the study.

    Conclusions:

    • The study provides evidence supporting a relationship between Noonan syndrome and partial factor XI deficiency.
    • Partial factor XI deficiency may contribute to the bleeding diathesis observed in some individuals with Noonan syndrome.
    • Further research is warranted to elucidate the genetic and clinical implications of this association.