Gene | First author, year | CFC syndrome | Noonan syndrome | Costello syndrome |
---|---|---|---|---|
CFC,cardiofaciocutaneous; MEK, mitogen-activated protein/extracellular signal-regulated kinase; PTPN11, protein tyrosine phosphatase SHP-2 gene. | ||||
*Values are genes found in number of patients/total number of patients. | ||||
BRAF | Niihori,18 2006 | 16/43 | ||
Rodriguez-Viciana,17 2006 | 18/23 | |||
KRAS | Niihori,18 2006 | 3/43 | ||
Schubbert, 57 2006 | 1/12 | 5/175 | ||
MEK1 | Rodriguez-Viciana,17 2006 | 2/23 | ||
MEK2 | Rodriguez-Viciana,17 2006 | 1/23 | ||
HRAS | Aoki,16 2005 | 12/13 | ||
Kerr,58 2006 | 37/43 | |||
Estep,54 2006 | 0/8 | 33/36 (20 patients overlap) | ||
Gripp,59 2006 | 33/40 | |||
Niihori,18 2006 | 0/43 | |||
PTPN11 | Ion,27 2002 | 0/28 | ||
Jongmans,60 2005 | 76/170 | |||
Kavamura,20 2003 | 0/10 | |||
Musante,61 2003 | 0/5 | 15/32 | ||
Tartaglia,15 2001 | 54/119 | |||
Tartaglia,55 2003 | 0/27 | |||
Troger,56 2003 | 0/18 | |||
Zenker,39 2004 | 34/57 |