Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pleiotropy

Pleiotropy

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,...

Neural Regulation

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.

Sex-linked Disorders

Sex-linked Disorders

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.

You might also read

Related Articles

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

Sort by

Same author

An integrated, scaled approach to resolve TSC2 variants of uncertain significance.

Nature communications·2026

Same author

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026

Same author

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

European journal of human genetics : EJHG·2026

Same author

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Clinical genetics·2026

Same author

Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder.

Neurology. Genetics·2026

Same author

Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in <i>GNAO1</i>-Related Disorders Using <i>Caenorhabditis elegans</i>.

Biomedicines·2026

Search research articles

Related Experiment Video

Updated: Sep 17, 2025

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

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

Published on: August 15, 2019

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Sarah M Brooker¹, Maria Novelli², Robert Coukos¹

¹Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Annals of Neurology

|July 1, 2025

Summary

Pathogenic variants in NUS1 cause a complex neurological disorder with epilepsy and movement issues. Most affected individuals experience developmental delays and significant disability from movement disorders.

More Related Videos

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

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

Published on: August 20, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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

Related Experiment Videos

Last Updated: Sep 17, 2025

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

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

Published on: August 15, 2019

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

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

Published on: August 20, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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

Area of Science:

Genetics
Neurology
Rare Diseases

Background:

Growing evidence links genetic factors in developmental and epileptic encephalopathies (DEEs) with movement disorders.
De novo loss-of-function variants in NUS1 have been recently identified in DEE cases.

Purpose of the Study:

To report a large cohort of cases with pathogenic NUS1 variants.
To describe the clinical presentation, epilepsy, and movement disorders associated with NUS1 variants.

Main Methods:

Multicentric international collaboration using the GeneMatcher platform.
Retrospective review of clinical case notes for affected subjects.

Main Results:

Identified 41 subjects with 38 distinct pathogenic NUS1 variants.
Majority presented with developmental delays and intellectual disability.
Epilepsy occurred in 68.3% of cases; movement disorders in 87.8%, often without epilepsy.
Complex movement disorder phenomenology included myoclonus, dystonia, ataxia, and parkinsonism.

Conclusions:

Heterozygous NUS1 pathogenic variants lead to a complex neurological disorder.
Features include DEEs and a wide spectrum of movement disorders.
Movement disorders are a primary source of neurological disability in most cases.