Table 1

PTPN11 gene mutations and associated congenital heart defect

Patients with congenital heart defectsPatients without congenital heart defects
SHP2 domainsPTPN11 exonsPTPN11 mutationsAmino acid changesNoonan syndromeML/LSNoonan syndromeML/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.
NH2-1C5TThr2Ile1 PS
N-SH22A124GThr42Ala†1 AVCD, 1 HCM
3T184GTyr62Asp†1 PS + ASD
A188GTyr63Cys†1 AVCD, 1 ASD, 1 PS (familial)
C215GAla72Gly†1 HCM + MVA
A236CGln79Pro2 PS
A317CAsp106Ala†1 ASD
PTP7A836GTyr279Cys†1PVS, 3 HCM1 (arrhythmia)
8A922GAsn308Asp†6 PS (1 familial)1
A923GAsn308Ser†2 PS (familial)
12C1403TThr468Met†2HCM, 1AVCD3 (1 arrhythmia, 1 familial)
13G1508CGly503Arg1 (familial)
A1510GMet504Val†1 (familial)
COOH-14C1678TLeu560Phe1 HCM
Total141420734