Collagen 4 (COL4) mutation: genetics and pathology
Evidence-based neurology checklist on collagen 4 (col4) mutation: genetics and pathology: 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…
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
Synonym
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.
