Related Experiment Video
Updated: Apr 27, 2026
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation
Michael C Brodsky1, Kadriye Erkan Turan2, Cheryl L Khanna1
1Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
Insights
A rare ACTA2 gene mutation was linked to congenital mydriasis, prune belly syndrome, and cerebrovascular issues in a young boy. This case highlights the wide range of birth defects caused by ACTA2 mutations.
Area of Science:
- Genetics
- Developmental Biology
- Neurology
Background:
- Congenital mydriasis is a rare condition characterized by abnormally large pupils present at birth.
- Prune belly syndrome is a rare disorder affecting the abdominal wall muscles, urinary system, and testes.
- Cerebrovascular anomalies involve abnormalities in the blood vessels of the brain.
Observation:
- A 9-year-old boy presented with congenital mydriasis, prune belly syndrome, and cerebrovascular anomalies.
- Genetic testing revealed a mutation in the ACTA2 gene.
Findings:
- The study identified a significant association between ACTA2 gene mutations and the co-occurrence of congenital mydriasis, prune belly syndrome, and cerebrovascular anomalies.
- This case demonstrates that ACTA2 mutations can lead to a spectrum of systemic malformations.
Implications:
- This finding expands the known spectrum of cerebrovascular anomalies associated with congenital mydriasis.
- Understanding the role of ACTA2 mutations is crucial for diagnosing and managing complex congenital conditions.
- Further research into ACTA2-related disorders may reveal new therapeutic targets.
Abstract:
We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.
Related Concept Videos
01:20Inborn Errors of Metabolism
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...