Related Experiment Video

Updated: May 6, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.8K

Genetics Review: Joubert Syndrome

Audrey M Tran1, Amy J Jnah2, Mauricio J De Castro Pretelt2

  • 1College of Nursing, East Carolina University, Greenville, NC, USA tranau23@students.ecu.edu.

Neonatal Network : NN
|June 19, 2025
PubMed

Insights

Joubert syndrome (JS) is a rare neurodevelopmental disorder affecting infants. This review details its genetics, symptoms, diagnosis, and management, emphasizing early recognition for better care.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Neurology
  • Medical Genetics

Background:

  • Joubert syndrome (JS) is a rare, inherited neurodevelopmental disorder affecting approximately 1 in 80,000-100,000 infants.
  • It is classified as a multisystem ciliopathy, impacting development due to genetic mutations affecting cilia function.
  • Classic diagnostic indicators include the characteristic "molar tooth" sign on brain imaging.

Purpose of the Study:

  • To provide a comprehensive overview of Joubert syndrome.
  • To consolidate current knowledge on JS genetics, pathophysiology, clinical features, diagnostics, and management strategies.
  • To highlight the importance of early diagnosis and expert consultation for optimizing patient care.

Main Methods:

  • Literature review of current research on Joubert syndrome.
  • Synthesis of information regarding genetic associations, clinical presentations, and diagnostic approaches.
  • Inclusion of expert insights from a pediatric geneticist specializing in JS.

Main Results:

  • Over 30 genes are currently linked to JS, with mutations disrupting ciliary function during embryonic development.
  • JS presents with a wide spectrum of symptoms and pathologies affecting multiple organ systems.
  • Early recognition and accurate molecular diagnosis are crucial for effective management and improved outcomes.

Conclusions:

  • Joubert syndrome is a complex ciliopathy requiring a multidisciplinary approach for diagnosis and care.
  • Advances in genetic testing are improving diagnostic capabilities for JS.
  • Timely intervention and specialized care are essential for managing the diverse challenges faced by individuals with JS.

Keywords:
Joubert syndromeclinical manifestationsgeneticinheritancemolar tooth signneonatalprevalence

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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

Published on: August 15, 2019

9.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

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

Published on: August 20, 2019

13.8K

Related Concept Videos

Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
43.7K
Genetics of Speciation02:16

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
19.0K
Incomplete Dominance01:43

Incomplete Dominance

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.
19.2K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.1K
Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
4.9K
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
4.9K