Table 1.
HPE | Location of chromosome | Casusal genes | Authors | References23,24) |
---|---|---|---|---|
HPE2 | 2p21 | SIX3 | Wallis DE | Nature Genet 22: 196–198, 1999 |
HPE3 | 7p36 | Sonic hedgehog (SHH) | Roessler E | Nature Genet 14: 357–360, 1996 |
HPE4 | 18p11.3 | TGIF1 | Gripp KW | Nature Genet 25: 205–208, 2000 |
HPE5 | 13q32 | ZIC2 | Brown SA | Nature Genet 20: 180–183, 1998 |
HPE7 | 9q22.3 | PATCHED-1(PTCH1) | Ming JE | Am J Hum Genet 71: 1017–1032, 2002 |
HPE9 | 2q14 | GLI2 | Roessler E | Proc Natl Acad Sci USA 100: 13424–13429, 2003 |
HPE10 | 1q42 | DISP1 | Roessler E | Hum Genet 125: 393–340, 2009 |
HPE11 | 11q24.2 | CDON | Bae GU | Am J Hum Genet 89: 231–240, 2011 |
HPE12 | 6q27 | DLL1 | Dupe V | Hum Mol Genet 20: 1122–1131, 2011 |
3p21–p23 | TDGF1 | De la Cruz JM | Hum Genet 110: 422–428, 2002 | |
6q22.31–q23.2 | EYA4 | Abe Y | Hum Mutat 30: E946–E955, 2009 | |
8q24.3 | FAST1(FOXH1) | Cohen MM Jr | Am J Med Genet 123A: 5–28, 2003 | |
9q21.33 | GAS1 | Ribeiro LA | Am J Med Genet 152A: 1688–1694, 2010 | |
10q22.4 | NODAL | Roessler E | Mol Genet Metab 98: 225–234, 2009 | |
10q24 | FGF8 | Arauz RF | Mol Syndromol 1: 59–66, 2010 | |
11q13.4 | DHCR7 | |||
HPE1 | 21q22 | |||
HPE6 | 2p37.1 | |||
HPE8 | 14q13 |
HPE: hydrocephalus.