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

40.1K
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,...
40.1K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.0K
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...
34.0K
Intellectual Disability01:29

Intellectual Disability

44
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
44
Glucose Transporters01:27

Glucose Transporters

22.5K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.5K
Genetic Lingo01:11

Genetic Lingo

101.5K
Overview
101.5K
Incomplete Dominance01:43

Incomplete Dominance

21.8K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.8K

You might also read

Related Articles

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

Sort by
Same author

Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation.

Allergologia et immunopathologia·2026
Same author

Long-term clinical outcomes of primary adrenal insufficiency caused by homozygous CYP11A1 p.R451W variant.

European journal of endocrinology·2026
Same author

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Journal of cancer research and clinical oncology·2026
Same author

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Molecular syndromology·2025
Same author

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.

Molecular syndromology·2025
Same author

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

European journal of pediatrics·2025

Related Experiment Video

Updated: Jun 10, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

22.8K

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Ayberk Turkyilmaz1, Kubra Adanur Saglam1, Mustafa Yilmaz1

  • 1Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Clinical Genetics
|October 10, 2024
PubMed
Summary

The SGSM3 gene, linked to intellectual disability (ID), was studied in siblings with short stature and ID. This research highlights SGSM3 as a potential candidate gene for nonsyndromic ID, warranting further functional investigation.

Keywords:
SGSM3candidate geneintellectual disabilitynovel phenotype

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
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

Related Experiment Videos

Last Updated: Jun 10, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

22.8K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.6K
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

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • SGSM proteins modulate the RAS signaling pathway and are highly expressed in the brain.
  • Previous studies suggested a link between the SGSM3 gene and Mendelian inherited intellectual disability (ID) in specific populations.
  • SGSM gene expression varies in the brain during different developmental stages.

Purpose of the Study:

  • To investigate the role of the SGSM3 gene in nonsyndromic intellectual disability.
  • To identify genetic variations in SGSM3 associated with clinical manifestations of ID and short stature.

Main Methods:

  • Genetic analysis to detect variations in the SGSM3 gene.
  • Clinical evaluation of siblings presenting with intellectual disability and short stature.

Main Results:

  • A novel homozygous stop-gain variation (NM_015705.6: c.1576C>T: p.(Arg526Ter)) in the SGSM3 gene was identified in two siblings.
  • Both siblings exhibited clinical findings of short stature and intellectual disability.
  • The identification of bi-allelic loss-of-function (LOF) variants in SGSM3 across different populations strengthens its association with nonsyndromic ID.

Conclusions:

  • The SGSM3 gene is a strong candidate for causing nonsyndromic intellectual disability.
  • Further functional studies are necessary to elucidate the mechanisms by which SGSM3 variations lead to ID and affect neuronal function.