Table 1.
Disease | Epigenetic Mechanism |
Gene Involved |
Reference |
---|---|---|---|
Vestibular Schwannoma | DNA Methylation | CASP8 | Lassaletta et al., 2006 |
Histone Acetylation | RASSF1A | Kino et al., 2001 | |
NF2 | Hirokawa et al., 2005 | ||
Retinoblastoma | DNA methylation | Rb | Sage et al., 2006 |
Lohmann et al., 1997 | |||
Rett Syndrome | DNA Methylation | MeCP2 | Buschdorf et al., 2004 |
Oculo-oto-radial syndrome | Unknown | Unknown | Elcioglu et al 1997 |
Stickler Syndrome | Methylcytosine deamination |
COL2A1 COL11A1 |
Wilkin et al., 2000 |
Facioscapulohumeral | DNA | D4Z4 | van Overveld et al., 2003 |
Muscular dystrophy | Hypomethylation | repeat array | |
Immunodeficiency-centromeric | DNA | DNMT3b | Braegger et al., 1991 |
instability-facial anomalies syndrome |
Hypomethylation | Stacey et al., 1995 | |
Beckwith-Wiedemann syndrome | Imprinting Error | KCNQ1OT1 | Weksberg et al., 2002 |
Murrell et al., 2004 | |||
CHARGE syndrome | Histone Acetylation? | CHD7? | Tong et al., 1998 |