Collagen 4 (COL4) mutation: genetics and pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Collagen 4 (COL4) mutation: genetics and pathology. This is caused by mutations in the COL4A1 and COL4A2 genes. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the COL4A1 and COL4A2 genes
- The genes encode α1 and α2 chains of type IV collagen
- The transmission is usually autosomal dominant
- It may be familial or sporadic
Pathology
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Synonym
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References
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease. Stroke 2010; 41:e513-e518.
- Zagaglia S, Selch C, Nisevic JR, et al. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology 2018; 91:e2078-e2088.
- Meuwissen ME, Halley DJ, Smit LS, et al. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med 2015; 17:843-853.
- Boyce D, McGee S, Shank L, Pathak S, Gould D. Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. Epilepsy Behav 2021; 125:108365.
