COL4A2

Gene product: alpha-2 chain of type IV collagen.

Protein function: It is an important component of the basement membrane.

Phenotype: Brain small vessel disease 2 (AD) [1]; Hemorrhage, intracerebral, susceptibility to [2]; porencephalic cysts[3]；schizencephaly[4]。

Mutation database: ClinVar.

References:

1. Meuwissen, M.E., 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(11): p. 843-53.
2. Jeanne, M., et al., COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet, 2012. 90(1): p. 91-101.
3. Zagaglia, S., et al., Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 2018. 91(22): p. e2078-e2088.
4. Itai, T., et al., Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet, 2020.