© 2019 by Gould Syndrome Foundation

Cleveland, Ohio, U.S.A.

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What is COL4A1/A2 


COL4A1/A2-related disorders are rare, genetic, multi-system disorders. They are typically characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of the brain (cerebral cortical abnormalities) and lung (pulmonary) abnormalities continue to emerge and the full spectrum is still uncharacterized.

There are notable differences in the specific signs and symptoms (clinical heterogeneity), and different organs are affected to different degrees between patients – even among members of a family who carry the same gene mutation. Abnormal blood vessels in the brain are a major consequence of COL4A1 and COL4A2 gene mutations.

The outcomes are highly variable ranging from brain hemorrhage before birth (in utero) leading to cavities in the brain (porencephaly) to mild age-related brain abnormalities that can only be observed on a specialized x-ray called magnetic resonance imaging (MRI).


Mice with Col4a1 and Col4a2 gene mutations have pathology in many organs and the presence and severity of pathology in a given organ appears to depend on the location of the mutation, genetic context, and environmental interactions. COL4A1/A2-related disorders follow an autosomal dominant pattern of inheritance.


The full article can be found here: https://rarediseases.org/rare-diseases/col4a1-a2-related-disorders/