A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Authors: Ha, Thuong T  Sadleir, Lynette G  Mandelstam, Simone A  Paterson, Sarah J  Scheffer, Ingrid E  Gecz, Jozef  Corbett, Mark A 
Citation: Ha TT, etal., Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527. Epub 2015 Dec 28.
Pubmed: (View Article at PubMed) PMID:26708157
DOI: Full-text: DOI:10.1002/ajmg.a.37527

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.

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CRRD Object Information
CRRD ID: 13450938
Created: 2017-11-13
Species: All species
Last Modified: 2017-11-13
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.