Related Experiment Video
Updated: Mar 9, 2026
Transient Middle Cerebral Artery Occlusion Model of Neonatal Stroke in P10 Rats
Published on: April 21, 2017
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis
Shaheen Durrani-Kolarik1, Kandamurugu Manickam2, Bernadette Chen3
1Nationwide Children's Hospital, Columbus, Ohio.
Insights
A de novo mutation in COL4A1, a gene encoding type IV collagen, was identified in an infant with severe neurological and ocular abnormalities. This finding is crucial for managing affected newborns and guiding genetic counseling.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- COL4A1 gene encodes alpha 1 chain of type IV collagen, essential for basal membranes.
- COL4A1 mutations can lead to severe conditions affecting brain, eyes, and vasculature.
- Expression is prominent in brain, muscles, kidneys, and eyes.
Observation:
- A term infant presented with encephalomalacia and intrauterine stroke.
- The infant also exhibited anterior segment dysgenesis, a developmental disorder of the eye.
- A de novo mutation in the COL4A1 gene was identified in this patient.
Findings:
- The identified de novo COL4A1 mutation is linked to severe neonatal neurological and ocular phenotypes.
- This mutation disrupts the function of type IV collagen, impacting basal membrane integrity.
- The case highlights the phenotypic variability and severity associated with COL4A1 mutations.
Implications:
- Genetic identification of COL4A1 mutations aids in accurate diagnosis of affected neonates.
- Understanding the mutation's impact is vital for perinatal management strategies.
- Genetic counseling for families with COL4A1 mutations can be informed by this case.
Background:
COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic or cause devastating disease. Neonates and children may present with porencephaly, intracerebral hemorrhage, or hemiparesis, whereas adults tend to develop intracranial aneurysms or retinal arteriolar tortuosities.
Patient Description:
We describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1.
Conclusions:
Identification of this mutation in affected individuals has implications for perinatal management and genetic counseling.
