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 Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...

You might also read

Related Articles

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

Sort by
Same author

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

American journal of human genetics·2026
Same author

Transdiagnostic Behavioral Phenotypes and Comorbid Gastrointestinal Symptoms in Neurodevelopmental Disorders: An Exploratory Study.

Autism research : official journal of the International Society for Autism Research·2025
Same author

Vincristine-induced brain toxicity is reduced with prevention of peripheral axon degeneration in Sarm1 knockout mice.

Acta neuropathologica communications·2025
Same author

The "route cause" of methotrexate-induced brain structure changes in a juvenile mouse model: Comparison of systemic and CNS-targeted chemotherapy.

Neurotoxicology·2025
Same author

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.

American journal of medical genetics. Part A·2025

Related Experiment Video

Updated: Jun 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Beckwith-Wiedemann syndrome.

Sanaa Choufani1, Cheryl Shuman, Rosanna Weksberg

  • 1Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|August 31, 2010
PubMed
Summary

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder affecting growth and increasing tumor risk. Genetic alterations in chromosome 11p15.5 cause BWS, with new findings expanding diagnostic challenges.

More Related Videos

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Related Experiment Videos

Last Updated: Jun 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Area of Science:

  • Genetics
  • Developmental Biology
  • Epigenetics

Background:

  • Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder.
  • It is characterized by overgrowth, tumor predisposition, and congenital malformations.
  • BWS arises from epigenetic or genomic alterations disrupting imprinted genes on chromosome 11p15.5.

Purpose of the Study:

  • To review the genetic and epigenetic mechanisms underlying Beckwith-Wiedemann syndrome.
  • To discuss the challenges in diagnosis and genetic counseling for BWS patients and families.

Main Methods:

  • Literature review of Beckwith-Wiedemann syndrome genetics.
  • Analysis of epigenetic and genomic alterations in imprinted domains.
  • Examination of gene expression patterns in BWS.

Main Results:

  • BWS is caused by disruptions in two imprinted domains on chromosome 11p15.5.
  • Increased insulin-like growth factor 2 (IGF2) expression in domain 1 and/or reduced CDKN1C expression in domain 2 are key features.
  • Mutations outside the critical 11p15.5 region have been identified in some BWS cases.

Conclusions:

  • Genetic and epigenetic dysregulation of chromosome 11p15.5 underlies BWS.
  • The identification of mutations beyond the classical BWS critical region complicates diagnosis and genetic counseling.
  • Further research is needed to fully understand the genetic basis and improve management of BWS.