A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

“…17,20,31,34 Stroke in later childhood and young adulthood was not reported in our cohort. In the literature, cerebral hemorrhages in childhood or in young adulthood have been documented in patients with COL4A1 mutations.…”

“…For this, a PubMed search was performed, identifying 27 articles with clinical and mutation data on COL4A1 7,8,[10][11][12][13][14][15][16][17][18][19][20][21][22][29][30][31][32][33][34][35][36][37][38][39][40] and 3 articles with data on COL4A2 mutations. [26][27][28] A total of 137 individuals with a COL4A1 mutation from 60 families and 15 individuals with a COL4A2 mutation from 7 families have been reported.…”

“…Hemorrhagic strokes Review typically affect the deep white matter, in combination with diffuse leukoencephalopathy and microbleeds. 17,20,31,34 Recurrence of strokes has been reported. 20,31 Two of the documented cases were sporadic, 20,34 the others were familial.…”

“…17,20,31,34 Recurrence of strokes has been reported. 20,31 Two of the documented cases were sporadic, 20,34 the others were familial. 17,31 sporadic late-onset hemorrhagic stroke…”

Basement membranes and human disease

“…Other COL4A1 mutations have been described in families with vascular and eye disease (Breedveld et al 2006;de Vries et al 2009;Gould et al 2005;Gould et al 2006;Shah et al 2009;Vahedi et al 2007b;van der Knaap et al 2006) (see below), but it is not known whether these patients have renal phenotypes. Analysis of patients and ENU mouse models with COL4A1 mutations has revealed that the mutations result in a spectrum of phenotypes determined by the individual mutation (Van Agtmael et al 2005), its location within the gene and genetic and environmental modifiers (Gould et al 2007;Gould et al 2006).…”