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

Sex-linked Disorders01:43

Sex-linked Disorders

100.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.0K
Respiratory System Abnormal Finding II: Palpation and Auscultation01:31

Respiratory System Abnormal Finding II: Palpation and Auscultation

258
In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
258
Cadherins in Tissue Organization01:19

Cadherins in Tissue Organization

2.9K
The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
2.9K
Pneumothorax-II01:27

Pneumothorax-II

118
Pneumothorax is a medical condition defined by the buildup of air in the pleural space between the lungs and the chest wall. This accumulation of air can lead to partial or complete lung collapse, resulting in a range of clinical manifestations. Understanding the clinical presentation and effective management strategies is crucial for healthcare professionals in providing timely and appropriate care to individuals with pneumothorax.
Clinical Manifestations:
118
Pleiotropy01:33

Pleiotropy

39.5K
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,...
39.5K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

182
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
182

You might also read

Related Articles

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

Sort by
Same author

Germline pathogenic PTEN variant in a patient with a Kaposiform haemangioendothelioma.

Cancer genetics·2026
Same author

Reflecting on Themes From Telehealth Consultations Early in the Pandemic: An Opportunity to Learn From Multiprofessional Colleagues.

International journal of telemedicine and applications·2026
Same author

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Diaphragmatic Hernia in a Newborn With COL1A1-Associated Classical Ehlers-Danlos Syndrome.

Case reports in genetics·2025
Same author

The effectiveness of kinesiology taping on dysphagia in brain tumor survivors after neurosurgery: study protocol for a pilot randomized controlled trial.

Frontiers in medicine·2025
Same author

Exploring availability of physiotherapy service for people with Parkinson's Disease in Europe: An cross-sectional study.

Clinical rehabilitation·2025

Related Experiment Video

Updated: May 29, 2025

Photoacoustic Cystography
09:49

Photoacoustic Cystography

Published on: June 11, 2013

13.2K

PACS2, PACS1, and VACTERL: A Clinical Overlap.

Hannah Massey1, Stephen Tennant2, John Dean2

  • 1Department of Clinical Genetics, Western General Hospital, Edinburgh, UK.

Molecular Syndromology
|February 6, 2025
PubMed
Summary

This study details a patient with a PACS2 gene variant, presenting with epilepsy, developmental delay, and novel features like VACTERL association. Findings suggest an expanded PACS2 disease spectrum and overlap with PACS1 conditions.

Keywords:
PACS1PACS2VACTERL

More Related Videos

A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

23.3K
A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

6.1K

Related Experiment Videos

Last Updated: May 29, 2025

Photoacoustic Cystography
09:49

Photoacoustic Cystography

Published on: June 11, 2013

13.2K
A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

23.3K
A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
11:27

A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn

Published on: April 7, 2023

6.1K

Area of Science:

  • Genetics
  • Developmental Biology

Background:

  • Whole-exome sequencing identifies novel genes implicated in developmental delay.
  • Phosphofurin acidic cluster sorting protein 1 (PACS1) and 2 (PACS2) are evolutionarily linked proteins functioning as metabolic switches.

Observation:

  • A patient with a known PACS2 variant (c.624G>A; p.Glu209Lys) exhibited infantile epilepsy, developmental delay, and cerebellar hypoplasia.
  • This patient also presented with previously undescribed features: anal atresia, tetralogy of Fallot, and vertebral abnormalities, leading to a VACTERL association diagnosis.

Findings:

  • The presented case highlights significant phenotypic overlap between PACS1 and PACS2 related disorders.
  • Cardiac abnormalities, typically associated with PACS1, were observed in this PACS2 patient.
  • Genetic mechanisms underlying cardiac and anal anomalies in PACS2 variants warrant further investigation.

Implications:

  • The findings suggest that the clinical spectrum of PACS2-related disorders should be broadened.
  • This case underscores the importance of considering genetic factors in complex congenital anomalies.
  • Further research is needed to elucidate the precise roles of PACS1 and PACS2 in development and disease.