A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Thuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. Families with mutations in COL4A2 are now emerging with a similar phenotype. We describe a family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities, which was negative for mutations in COL4A1. Using whole exome sequencing of three affected individuals from three generations, we identified a rare variant in COL4A2. This COL4A2 (c.2399G>A, p.G800E, CCDS41907.1) variant was predicted to be damaging by multiple bioinformatics tools and affects an invariable glycine residue that is essential for the formation of collagen IV heterotrimers. The cataracts identified in this family expand the phenotypic spectrum associated with mutations in COL4A2 and highlight the increasing overlap with phenotypes associated with COL4A1 mutations.

Original languageEnglish
Pages (from-to)1059-1063
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished or Issued - 1 Apr 2016
Externally publishedYes


  • Autosomal dominant
  • COL4A1
  • COL4A2
  • Cataracts
  • Epilepsy
  • Porencephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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