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

Fibril-associated Collagen01:11

Fibril-associated Collagen

2.7K
Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
2.7K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

382
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,...
382
Pleiotropy01:33

Pleiotropy

41.3K
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,...
41.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.1K
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,...
16.1K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

205
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
205
Sex-linked Disorders01:43

Sex-linked Disorders

103.3K
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.
103.3K

You might also read

Related Articles

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

Sort by
Same author

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

European journal of human genetics : EJHG·2026
Same author

X-ray fluorescence spectroscopy for rapid identification of cathode chemistry in lithium-ion battery recycling.

Communications engineering·2026
Same author

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review.

Bone·2026
Same author

International guideline on genetic testing of children with short stature.

European journal of endocrinology·2026
Same author

<i>CRTAP</i>-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in <i>CRTAP</i>.

Molecular syndromology·2025
Same author

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Clinical genetics·2025

Related Experiment Video

Updated: Sep 29, 2025

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

13.8K

Novel FGF9 variant contributes to multiple synostoses syndrome 3.

Stephanie M Dobson1, Courtney Kiss2, Daniel Borschneck3

  • 1Queen's Medical School, Queen's University, Kingston, Ontario, Canada.

American Journal of Medical Genetics. Part A
|March 22, 2022
PubMed
Summary

Multiple synostoses syndromes (SYNS) involve joint fusions and can be caused by variants in the FGF9 gene. A novel FGF9 variant was identified in a patient with multiple bony abnormalities, expanding knowledge of SYNS3.

Keywords:
FGF9joint dislocationskeletal dysplasia

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.0K

Related Experiment Videos

Last Updated: Sep 29, 2025

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

13.8K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.9K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.0K

Area of Science:

  • Genetics
  • Molecular Biology
  • Skeletal Dysplasias

Background:

  • Multiple synostoses syndromes (SYNS) are a group of genetic disorders characterized by the fusion of multiple joints.
  • These syndromes exhibit genetic heterogeneity, with mutations identified in genes such as NOG, GDF5, FGF9, and GDF6.
  • SYNS3 is specifically associated with pathogenic variants in the FGF9 gene, presenting with joint fusions, craniosynostosis, and normal development otherwise.

Observation:

  • A patient presented with elbow instability and reduced range of motion.
  • Radiological imaging revealed bilateral radial head deformities, carpal-tarsal fusions, brachydactyly, and sacroiliac joint osteoarthritis.
  • Whole-exome sequencing identified a novel FGF9 variant, c.569G>C p.(Arg190Thr).

Findings:

  • The identified FGF9 variant, p.(Arg190Thr), was predicted by in silico modeling to destabilize ligand-receptor binding, supporting its pathogenicity.
  • This discovery expands the known spectrum of FGF9 variants associated with SYNS3.
  • Phenotypic manifestations appear more correlated with the functional impact of the variant on the receptor rather than its specific localization.

Implications:

  • This finding contributes to a better understanding of the genotype-phenotype correlations in SYNS3.
  • The results are valuable for genetic counseling, particularly with the emergence of de novo variants.
  • Further research into FGF9 variant effects can refine diagnostic and prognostic capabilities for patients with multiple synostoses syndromes.