Related Experiment Video
Updated: Jul 29, 2025
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
Mutation in PYCR2 gene and hypomyelinating leukodystrophy in children: a case report study
Seyed Ahmad Hosseini1, Mousa Ghelichi-Ghojogh2
1Department of Pediatrics, Neonatal and Children's Health Research Center Research Center, Golestan University of Medical Science, Gorgan, Iran.
Insights
Hypomyelinating leukodystrophies are rare inherited brain disorders. A PYCR2 gene mutation caused hypomyelinating leukodystrophy type 10 in a young child, highlighting advances in genetic diagnosis.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Hypomyelinating leukodystrophies are inherited central nervous system disorders.
- Characterized by a lack of myelin in the brain.
- Represents a heterogeneous group of conditions.
Purpose of the Study:
- To present a case of hypomyelinating leukodystrophy.
- To identify the genetic cause of the disorder in a pediatric patient.
- To emphasize the role of genetic testing in diagnosing rare neurological conditions.
Main Methods:
- Whole exome sequencing was performed.
- Genetic analysis identified a specific mutation.
- Clinical presentation was correlated with genetic findings.
Main Results:
- A nonsense homozygous mutation in the PYCR2 gene was identified.
- This mutation is associated with hypomyelinating leukodystrophy type 10.
- The patient presented with neurological symptoms at 6 months of age.
Conclusions:
- Genetic testing, including whole exome sequencing, is crucial for diagnosing hypomyelinating leukodystrophies.
- Advances in genetic technology improve diagnostic capabilities for complex neurological disorders.
- Increased awareness and accessibility of genetic testing aid in early and accurate diagnosis, even in developing regions.
Abstract:
Hypomyelinating leukodystrophies are a heterogeneous group of inherited white matter disorders characterized by a predominant absence of myelin deposits in the central nervous system.
Case Presentation:
The patient was a one-year-old girl child. She at the age of 6 months was hospitalized due to loose, muscle weakness, and an upward gaze for 7-8 min with complaints of fever and convulsions.
Clinical Discussion:
Using the test of whole exome sequencing, a nonsense homozygous mutation was found in the PYCR2 gene, which a mutation in the PYCR2 gene causes hypomyelinating leukodystrophy type 10 disease.
Conclusion:
Advances in the field of genetics, increased awareness, and the increasing availability of genetic testing in small cities in developing countries are helping to better assess complex neurological disorders and establish a complete diagnosis.
Related Concept Videos
01:22Lysosomal Hydrolases
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...