Table 3 Comparison of PTPN11 pathogenic variant data and their association with heart defects in our study and in other NS studies
From: Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Study | No. of patients tested | No. of PTPN11 positive patients (%) | Percentage of PTPN11 positive patients with PS | Percentage of PTPN11 Positive patients with (Septal defects) ASD + VSD | Percentage of PTPN11 positive patients with HCM |
|---|---|---|---|---|---|
Atik et al. 2015 [10] | 20 | 20 (100) | 55 | 5 | 10 |
Bertola et al. 2006 [26] | 61 | 26 (42.6) | 67 | – | 10 |
Cizmarova et al. 2016 [14] | 51 | 22 (43) | 63 | 31.79 | 9.09 |
Dallapicola et al. 2003 [13] | 84 | 34(40) | 41 | 5.90 | 23.05 |
Ezquieta et al. 2012 [27] | 643 | 172(27) | 49 | – | 3.48 |
Ferrero et al 2008 [28] | 40 | 14 (31.5) | 85.70 | 7.14 | 7.14 |
Hung et al. 2007 [29] | 34 | 13(38) | – | – | – |
Jongmans et al. 2005 [30] | 170 | 76(45) | 68 | 30 | 7 |
Kiper et al. 2012 [15] | 31 | 9(28) | 55 | 33 | 11.10 |
Kosaki et al. 2002 [16] | 21 | 7 (33) | 42 | 42 | – |
Louati et al 2014 [17] | 19 | 9 (43) | 88 | 22.20 | – |
Maheshwari et al. 2002 [18] | 16 | 8(50) | 75 | 18.75 | – |
Min Ko et al. 2008 [19] | 59 | 16(27) | 50 | 36 | 18 |
Mona L. Essawi et al. 2013 [20] | 21 | 21(100) | 24 | – | 19 |
Musante et al. 2002 [21] | 96 | 32(33) | 70 | 23 | – |
Papadopoulous et al. 2011 [22] | 60 | 17(29) | 65 | 17 | – |
Rodriguez et al 2014 [23] | 18 | 4(22) | 25 | – | – |
Shuba Phadke et al. 2017 [1] | 17 | 11(64.7) | 54 | 36.36 | – |
Tartaglia et al. 2002 [24] | 119 | 54(45) | 70 | 12 | 5.90 |
Yoshida et al. 2004 [25] | 45 | 18(40) | 88 | 88 | – |
Zenker et.al 2004 [11] | 57 | 34(60) | 88 | 94 | 26.40 |
Current study | 363 | 107(29) | 35.3 | 40.01 | 8.5 |