Article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
European journal of human genetics : EJHG - 1 Aug 2012
Verbeek Elly, Meuwissen Marije E C, Verheijen Frans W, Govaert Paul P, Licht Daniel J, Kuo Debbie S, Poulton Cathryn J, Schot Rachel, Lequin Maarten H, Dudink Jeroen, Halley Dicky J, de Coo René I F, den Hollander Jan C, Oegema Renske, Gould Douglas B, Mancini Grazia M S
Abstract excerpt
Familial porencephaly, leukoencephalopathy and small-vessel disease belong to the spectrum of disorders ascribed to dominant mutations in the gene encoding for type IV collagen alpha-1 (COL4A1). Mice harbouring mutations in either Col4a1 or Col4a2 suffer from porencephaly, hydrocephalus, cerebral and ocular bleeding and developmental defects. We observed porencephaly and white matter lesions in members from two...
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