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

Intellectual Disability01:29

Intellectual Disability

137
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...
137
Sex-linked Disorders01:43

Sex-linked Disorders

102.7K
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.
102.7K
Learning Disabilities01:25

Learning Disabilities

255
Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
255
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

187
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
187
Pedigree Analysis01:35

Pedigree Analysis

84.7K
Overview
84.7K
Biological Influences on Intelligence01:30

Biological Influences on Intelligence

184
Intelligence is often thought to be linked to brain size, but the relationship is more complex than that. While brain size does correlate modestly with some abilities, like verbal skills, the connection is weaker for others, such as spatial reasoning. Other factors, like brain structure, also play crucial roles. For instance, despite Einstein's smaller-than-average brain, his parietal cortex, which is involved in spatial reasoning, was 15% wider, suggesting that neural density might matter...
184

You might also read

Related Articles

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

Sort by
Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

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

Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment.

Molecular genetics and metabolism·2026
Same author

<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.

Genes·2026
Same author

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Neurology·2026
Same author

Characterization of a <i>UQCRC1</i> variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation.

Molecular genetics and metabolism reports·2026
Same author

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

Genes·2026

Related Experiment Video

Updated: Aug 23, 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

X-Linked intellectual disability update 2022.

Charles E Schwartz1, Raymond J Louie1, Annick Toutain2

  • 1Greenwood Genetic Center, Greenwood, South Carolina, USA.

American Journal of Medical Genetics. Part A
|October 27, 2022
PubMed
Summary

Twenty-one new genes linked to X-linked intellectual disability (XLID) have been identified, involving transcription, mitochondrial function, and metabolism. These discoveries highlight the X chromosome

Keywords:
X-chromosomegenesintellectual disability

More Related Videos

Author Spotlight: A Lightweight Drive Implant for Chronic Tetrode Recordings in Juvenile Mice
06:34

Author Spotlight: A Lightweight Drive Implant for Chronic Tetrode Recordings in Juvenile Mice

Published on: June 2, 2023

3.0K
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

8.7K

Related Experiment Videos

Last Updated: Aug 23, 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
Author Spotlight: A Lightweight Drive Implant for Chronic Tetrode Recordings in Juvenile Mice
06:34

Author Spotlight: A Lightweight Drive Implant for Chronic Tetrode Recordings in Juvenile Mice

Published on: June 2, 2023

3.0K
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

8.7K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • X-linked intellectual disability (XLID) comprises a significant portion of inherited intellectual disabilities.
  • Previous research has identified numerous genes associated with XLID, but many cases remain genetically unresolved.
  • Understanding the genetic basis of XLID is crucial for diagnosis, counseling, and potential therapeutic strategies.

Purpose of the Study:

  • To report the identification and characterization of newly discovered genes associated with X-linked intellectual disability.
  • To update the landscape of known XLID genes and assess the remaining genetic heterogeneity.
  • To compare the gene density associated with intellectual disability on the X chromosome versus autosomes.

Main Methods:

  • Systematic sequencing approaches including candidate gene sequencing, X-chromosome sequencing, whole-exome sequencing, and whole-genome sequencing.
  • Analysis of genetic data from individuals and families affected by X-linked intellectual disability.
  • Integration of newly identified genes with existing XLID databases and syndrome classifications.

Main Results:

  • Twenty-one novel genes have been associated with X-linked intellectual disability since 2017.
  • These newly identified genes are primarily involved in transcription, mitochondrial function, glycoprotein metabolism, and ubiquitination.
  • Despite recent discoveries, a substantial number of XLID syndromes (21%) and nonsyndromic families (25%) remain genetically unresolved.
  • The density of intellectual disability genes on the X chromosome is approximately twice that found on autosomes.

Conclusions:

  • The discovery of new XLID genes continues to expand our understanding of the genetic architecture of intellectual disability.
  • The X chromosome remains a significant contributor to intellectual disability, with a higher gene density compared to autosomes.
  • Further research is needed to elucidate the genetic basis of the remaining unresolved XLID cases.