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

Neurofibromatosis type 2.

D G Evans1, M Sainio, M E Baser

  • 1Department of Medical Genetics, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK. gevans@central.cmht.nwest.nhs.uk

Journal of Medical Genetics
|January 11, 2000
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

Clinical implementation of polygenic risk scores.

European journal of human genetics : EJHG·2025
Same author

Breast cancer germline multigene panel testing in mainstream oncology based on clinical-public health utility: ESMO Precision Oncology Working Group recommendations.

Annals of oncology : official journal of the European Society for Medical Oncology·2025
Same author

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing.

Annals of oncology : official journal of the European Society for Medical Oncology·2024
Same author

Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Annals of oncology : official journal of the European Society for Medical Oncology·2022
Same author

Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.

Hereditary cancer in clinical practice·2022
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

Neurofibromatosis type 2 (NF2) is a genetic disorder causing tumors like schwannomas and meningiomas. NF2 gene mutations, identified through genetic testing, are linked to tumor development and patient morbidity.

Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder.
  • Previously confused with neurofibromatosis type 1.
  • Characterized by schwannomas, meningiomas, and other central nervous system tumors.

Purpose of the Study:

  • To clarify the genetic basis and clinical features of NF2.
  • To understand the role of the NF2 gene and its product, merlin/schwannomin.
  • To differentiate NF2 from other neurofibromatosis types.

Main Methods:

  • Genetic analysis to identify NF2 mutations.
  • Review of clinical data for patients with NF2.
  • Molecular studies on the function of merlin/schwannomin.

Related Experiment Videos

Main Results:

  • NF2 is caused by mutations in the NF2 gene.
  • Tumorigenesis in NF2 involves the inactivation of the NF2 tumor suppressor gene.
  • Merlin/schwannomin, the NF2 gene product, regulates cell proliferation, adhesion, and migration.
  • Mosaicism for NF2 mutations occurs in sporadic cases.

Conclusions:

  • NF2 is a distinct genetic disorder with specific tumor manifestations.
  • The NF2 gene and its protein product, merlin/schwannomin, are crucial in preventing tumor formation.
  • Genetic testing is important for diagnosing NF2 and understanding its pathogenesis.