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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.5K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.5K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
  1. Home
  3. Research Domains
  5. Biomedical And Clinical Sciences
  7. Paediatrics
  9. Infant And Child Health
  11. Rare Structural Variants Uncovered By Optical Genome Mapping In Multisystem Inflammatory Syndrome In Children (mis-c)

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)

Catherine A Brownstein1,2, Caspar I van der Made3, Kristin Cabral1

  • 1Division of Genetics and Genomics The Manton Center For Orphan Disease Research Harvard Medical School Boston Children's Hospital Boston Massachusetts USA.

Advanced Genetics (Hoboken, N.J.)
|December 31, 2025

Related Experiment Videos

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

563
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K

View abstract on PubMed

Summary
This summary is machine-generated.

Optical Genome Mapping identified rare structural variants in children with Multisystem Inflammatory Syndrome (MIS-C). These genetic findings may explain disease variations and susceptibility to severe COVID-19 or Kawasaki Disease.

Keywords:
MIS‐CSARS‐CoV‐2optical genome mapping

Related Experiment Videos

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

563
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.0K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.7K

Area of Science:

  • Genetics
  • Pediatrics
  • Immunology

Background:

  • Multisystem Inflammatory Syndrome in Children (MIS-C) is a serious pediatric condition linked to SARS-CoV-2 infection.
  • MIS-C often involves multiorgan inflammation and cardiovascular issues.
  • Understanding the genetic underpinnings of MIS-C is crucial for explaining disease heterogeneity.

Purpose of the Study:

  • To investigate the utility of Optical Genome Mapping (OGM) in identifying structural variants in patients with MIS-C.
  • To explore potential genetic factors contributing to MIS-C, MIS-C-like presentations, and severe COVID-19 outcomes.

Main Methods:

  • A prospective cohort study involving 14 pediatric patients (11 with MIS-C, 3 with MIS-C-like presentations).
  • Optical Genome Mapping (OGM) was performed on all patients.
  • Structural Variants (SVs) and Copy Number Variations (CNVs) were identified and filtered against control databases.

Main Results:

  • Seven out of 14 patients (50%) had prioritized variants near genes involved in immune regulation or SARS-CoV-2 response.
  • Identified variants included insertions/deletions in ORAI1, STAT4, ITPR1, BATF, CFHR5, and DOCK2.
  • OGM revealed SVs potentially influencing inflammation, COVID-19 severity, and Kawasaki Disease susceptibility.

Conclusions:

  • OGM is a feasible and valuable tool for assessing complex pediatric syndromes like MIS-C.
  • Rare structural variants may contribute to the diverse clinical presentations and severity of MIS-C.
  • These findings offer biologically plausible mechanisms for MIS-C heterogeneity and susceptibility.