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

Pedigree Analysis01:35

Pedigree Analysis

84.2K
Overview
84.2K
Genetic Lingo01:11

Genetic Lingo

102.6K
Overview
102.6K
Pleiotropy01:33

Pleiotropy

40.4K
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,...
40.4K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.3K
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...
34.3K
Neurulation01:30

Neurulation

41.8K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
41.8K

You might also read

Related Articles

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

Sort by
Same author

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

medRxiv : the preprint server for health sciences·2026
Same authorSame journal

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026
Same author

Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

Science advances·2026
Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026
Same author

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

Nature communications·2026
Same author

Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.

International journal of molecular sciences·2026
Same journal

Alzheimer's Disease Cerebrospinal Fluid Biomarkers Predict Survival in Progressive Supranuclear Palsy.

Movement disorders : official journal of the Movement Disorder Society·2026
Same journal

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study.

Movement disorders : official journal of the Movement Disorder Society·2026
Same journal

Longitudinal Dynamics of Polyglutamine-Expanded ATXN3 in Biofluids of Spinocerebellar Ataxia Type 3.

Movement disorders : official journal of the Movement Disorder Society·2026
Same journal

Putamen Structural-Functional Decoupling as an Early-Stage Candidate Imaging Marker for Motor Severity in Spinocerebellar Ataxia Type 3.

Movement disorders : official journal of the Movement Disorder Society·2026
Same journal

Melanopsin-Mediated Post-Illumination Pupillary Response in Idiopathic Rapid Eye Movement (REM) Sleep Behavior Disorder and Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society·2026
See all related articles

Related Experiment Video

Updated: Jun 23, 2025

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

9.7K

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Juan Darío Ortigoza-Escobar1,2,3, Mina Zamani4,5,6, Nathalie Dorison7

  • 1Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

Movement Disorders : Official Journal of the Movement Disorder Society
|June 20, 2024
PubMed
Summary
This summary is machine-generated.

Biallelic ZBTB11 variants cause intellectual developmental disorder (MRT69) with progressive movement issues. This study details clinical and genetic features of ZBTB11-related disorders, including novel variants and treatment observations.

Keywords:
ZBTB11cataractsdeep brain stimulationmovement disorders

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 23, 2025

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

9.7K
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
  • Neurology
  • Rare Diseases

Background:

  • Biallelic ZBTB11 variants are linked to intellectual developmental disorder, MRT69.
  • ZBTB11-related disorders (ZBTB11-RD) are ultrarare genetic conditions.

Purpose of the Study:

  • To characterize the clinical and genetic spectrum of ZBTB11-RD.
  • To emphasize the progressive complex movement abnormalities associated with ZBTB11-RD.

Main Methods:

  • Clinical and genetic data from 13 new and 16 previously reported individuals with biallelic ZBTB11 variants were analyzed.
  • Patient ages ranged from 2 to 50 years.

Main Results:

  • Neurodevelopmental phenotypes varied in severity, with ocular and neurological features present in all patients.
  • Complex movement abnormalities (ataxia, dystonia, myoclonus, stereotypies, tremor) were observed in 11 new patients.
  • Cataracts were noted in 7 new patients, and deep brain stimulation showed success in one case of progressive dystonia. Thirteen novel variants were identified.

Conclusions:

  • ZBTB11-RD presents with a spectrum of neurodevelopmental phenotypes.
  • Progressive movement abnormalities are a key feature of ZBTB11-RD, occurring alongside neurodevelopmental issues.