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

Pleiotropy01:33

Pleiotropy

40.4K
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,...
40.4K

You might also read

Related Articles

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

Sort by
Same author

Antimicrobial susceptibility, molecular characterization and multilocus sequence typing of Staphylococcus aureus isolates associated with subclinical mastitis in buffaloes (Bubalus bubalis) in Haryana, India.

Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology]·2026
Same author

Mapping the TAR vRNA Interaction with HIV-1 Integrase.

Viruses·2026
Same author

Unravelling the conformational dynamics of pathogenic mutations of apolipoprotein M: an integrative computational and molecular dynamics simulation approach.

Journal of biomolecular structure & dynamics·2026
Same author

Circulating metabolome as key biomarkers for ventilator-associated pneumonia: Case-Control study in a tertiary care hospital of North India.

International journal of critical illness and injury science·2026
Same author

Mapping the vRNA Interaction with HIV-1 Integrase.

bioRxiv : the preprint server for biology·2026
Same author

Design and development of high clearance e-vehicle for robotic cotton picker.

Scientific reports·2026

Related Experiment Video

Updated: Jul 2, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K

Zellweger Syndrome: A Case Report.

Prajwala Yogi1, Chunauti Bahik1, Rahul Yadav1

  • 1Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

JNMA; Journal of the Nepal Medical Association
|February 27, 2024
PubMed
Summary

Zellweger syndrome, a peroxisome biogenesis disorder, presents with severe neonatal dysfunction. Prompt diagnosis via whole genomic sequencing is crucial for care, genetic testing, and counseling.

More Related Videos

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

8.6K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Related Experiment Videos

Last Updated: Jul 2, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.1K
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

8.6K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.0K

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Zellweger syndrome is a severe autosomal recessive peroxisome biogenesis disorder.
  • It manifests neonatally with profound central nervous system, liver, and kidney dysfunction.
  • Mutations in PEX genes impair peroxisome assembly, leading to very long-chain fatty acid accumulation.

Observation:

  • A 5-month-old male infant presented with neonatal hypotonia, feeding difficulties, congenital anomalies, and failure to thrive.
  • The infant experienced seizures, aspiration pneumonia, and recurrent severe pneumonia during early infancy.
  • Whole genomic sequencing confirmed the diagnosis of Zellweger syndrome.

Findings:

  • The case highlights the clinical spectrum of Zellweger syndrome, including neurological and respiratory complications.
  • Genetic mutations in PEX genes are the underlying cause of this disorder.
  • Accumulation of very long-chain fatty acids is a key biochemical marker.

Implications:

  • Early and accurate diagnosis of Zellweger syndrome is vital for managing symptoms.
  • Definitive genetic testing and prenatal counseling are essential for affected families.
  • While no cure exists, prompt diagnosis facilitates appropriate supportive care and future family planning.