Abstract
BackgroundCOL4A1 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 DescriptionWe describe a term infant with encephalomalacia, extensive intrauterine stroke and anterior segment dysgenesis with a de novo mutation in COL4A1. ConclusionsIdentification of this mutation in affected individuals has implications for perinatal management and genetic counseling.
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