Patients with congenital heart defects | Patients without congenital heart defects | ||||||
---|---|---|---|---|---|---|---|
SHP2 domains | PTPN11 exons | PTPN11 mutations | Amino acid changes | Noonan syndrome | ML/LS | Noonan syndrome | ML/LS |
†Known mutations.9,10 | |||||||
ASD, atrial septal defect; AVCD, atrioventricular septal defect; COOH-, COOH terminal region; CSH2, C terminal SH 2 domain; HCM, hypertrophic cardiomyopathy; ML/LS, multiple lentigines/LEOPARD syndrome; MVA, mitral valve anomaly; NH2-′, NH2 terminal region; N-SH2, N-terminal SH2 domain; PS, pulmonary valve stenosis; PTP, phosphotyrosine phosphatase domain. | |||||||
NH2- | 1 | C5T | Thr2Ile | 1 PS | |||
N-SH2 | 2 | A124G | Thr42Ala† | 1 AVCD, 1 HCM | |||
3 | T184G | Tyr62Asp† | 1 PS + ASD | ||||
A188G | Tyr63Cys† | 1 AVCD, 1 ASD, 1 PS (familial) | |||||
C215G | Ala72Gly† | 1 HCM + MVA | |||||
A236C | Gln79Pro | 2 PS | |||||
A317C | Asp106Ala† | 1 ASD | |||||
PTP | 7 | A836G | Tyr279Cys† | 1PVS, 3 HCM | 1 (arrhythmia) | ||
8 | A922G | Asn308Asp† | 6 PS (1 familial) | 1 | |||
A923G | Asn308Ser† | 2 PS (familial) | |||||
12 | C1403T | Thr468Met† | 2HCM, 1AVCD | 3 (1 arrhythmia, 1 familial) | |||
13 | G1508C | Gly503Arg | 1 (familial) | ||||
A1510G | Met504Val† | 1 (familial) | |||||
COOH- | 14 | C1678T | Leu560Phe | 1 HCM | |||
Total | 14 | 14 | 20 | 7 | 3 | 4 |