Table 2.
Cerebrovascular features associated with human COL4A1 and COL4A2 mutations
| Reference | Porencephaly | ICH/stroke | Leukoencephalopathy | Microbleeds | ICA | |
|---|---|---|---|---|---|---|
| COL4A1 mutations | ||||||
| p.M1L | Breedveld et al. (81) | 4/5 | 1/1 | 3/3 | 1/1 | |
| p.P352L | Weng et al. (84) | 1/1 | 1/1 | |||
| p.G498D | Plaisier et al. (94) | 0/3 | 1/3 | 1/2 | ||
| p.G498V | Plaisier et al. (90), Alamowitch et al. (91) | 0/8 | 3/6 | 5/6 | 2/6 | 3/6 |
| p.G510R | Plaisier et al. (94) | 0/3 | 0/2 | 0/2 | ||
| p.G519R | Plaisier et al. (90), Alamowitch et al. (91) | 0/4 | 1/2 | 1/2 | 1/2 | |
| p.G525L | Plaisier et al. (94) | 0/5 | 1/5 | 4/4 | 1/4 | |
| p.G528D | Plaisier et al. (90), Alamowitch et al. (91) | 0/2 | 0/1 | 1/1 | 1/1 | 1/1 |
| p.R538G | Weng et al. (84) | 1/1 | ||||
| p.G562E | Gould et al. (80), Vahedi et al. (89) | 2/6 | 2/6 | 6/6 | 3/4 | 0/1 |
| p.G658D | Livingston et al. (95) | 2/2 | ||||
| p.G693E | Livingston et al. (95) | 1/1 | 0/1 | |||
| p.G720D | Sibon et al. (88) | 1/5 | 2/5 | 5/5 | 1/5 | 1/1 |
| p.G749S | Gould et al. (79), Aguglia et al. (2004) (123), Vermeulen et al. (2011) (124) | 4/11 | 1/2 | 0/3 | ||
| p.G755R | Shah et al. (92) | 0/3 | 4/5 | 5/5 | 2/4 | 1/3 |
| Rouaud et al. (93) | ||||||
| Shah et al. (96) | ||||||
| p.G773R | Shah et al. (96) | 1/2 | 1/2 | 2/2 | ||
| p.G805R | Vahedi et al. (82) | 1/1 | 1/1 | 1/1 | 1/1 | 0/1 |
| p.G808V | Meuwissen et al. (2011) (125) | 1/1 | 1/1 | |||
| p.G882D | Shah et al. (96) | 1/2 | ||||
| c.2716+1 G>A | Meuwissen et al. (2011) (125) | 1/1 | 1/1 | |||
| p.G990E | Livingston et al. (95) | 1/1 | 1/1 | |||
| p.G1008R | Meuwissen et al. (2011) (125) | 1/1 | 1/1 | |||
| p.M1016V | Labelle-Dumais et al. (97) | |||||
| p.G1044R | Meuwissen et al. (2011) (125) | 1/1 | 1/1 | |||
| p.G1103R | Lichtenbelt et al. (83) | 1/1 | 1/1 | |||
| p.G1130D | Breedveld et al. (81) | 3/3 | 2/2 | |||
| p.G1236R | Gould et al. (79) | 3/3 | 1/3 | 3/3 | 1/3 | 0/3 |
| van der Knaap et al. (2006) (126) | ||||||
| p.G1266R | Shah et al. (96) | 2/2 | 2/2 | 1/1 | ||
| p.G1314V | Livingston et al. (95) | 1/1 | 1/1 | |||
| p.Q1316E | Labelle-Dumais et al. (97) | |||||
| p.G1378D | Livingston et al. (95) | 1/1 | 1/1 | |||
| p.G1384S | Vermeulen et al. (2011) (124) | 1/1 | 1/1 | |||
| p.G1423R | Breedveld et al. (81) | 2/2 | 2/2 | |||
| p.P1530_M1531dup | Bilguvar et al. (2009) (127) | 2/4 | ||||
| p.G1580R | de Vries et al. (2009) (128) | 4/4 | 3/4 | 4/4 | 0/1 | 0/3 |
| COL4A2 mutations | ||||||
| p.G1037E | Yoneda et al. (87) | 1/1 | 1/1 | 0/1 | ||
| p.R1069fs | Verbeek et al. (86) | 2/3 | 0/2 | 0/2 | ||
| p. E1123G | Jeanne et al. (85) | 2/2 | ||||
| p.Q1150K | Jeanne et al. (85) | 1/1 | ||||
| p.G1152D | Yoneda et al. (87) | 3/4 | 0/1 | |||
| p.G1389R | Verbeek et al. (86) | 1/3 | 2/3 | 1/3 | ||
| p.A1690T | Jeanne et al. (85) | 1/1 | ||||
ICH, intracerebral hemorrhage; ICA, intracranial aneurysm.