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Article

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

American journal of medical genetics. Part A - 1 Apr 2016

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

Abstract excerpt

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...

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PMID: 26708157
DOI: 10.1002/ajmg.a.37527

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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