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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

StudyNo. of patients testedNo. of PTPN11 positive patients (%)Percentage of PTPN11 positive patients with PSPercentage of PTPN11 Positive patients with (Septal defects) ASD + VSDPercentage of PTPN11 positive patients with HCM
Atik et al. 2015 [10]2020 (100)55510
Bertola et al. 2006 [26]6126 (42.6)6710
Cizmarova et al. 2016 [14]5122 (43)6331.799.09
Dallapicola et al. 2003 [13]8434(40)415.9023.05
Ezquieta et al. 2012 [27]643172(27)493.48
Ferrero et al 2008 [28]4014 (31.5)85.707.147.14
Hung et al. 2007 [29]3413(38)
Jongmans et al. 2005 [30]17076(45)68307
Kiper et al. 2012 [15]319(28)553311.10
Kosaki et al. 2002 [16]217 (33)4242
Louati et al 2014 [17]199 (43)8822.20
Maheshwari et al. 2002 [18]168(50)7518.75
Min Ko et al. 2008 [19]5916(27)503618
Mona L. Essawi et al. 2013 [20]2121(100)2419
Musante et al. 2002 [21]9632(33)7023
Papadopoulous et al. 2011 [22]6017(29)6517
Rodriguez et al 2014 [23]184(22)25
Shuba Phadke et al. 2017 [1]1711(64.7)5436.36
Tartaglia et al. 2002 [24]11954(45)70125.90
Yoshida et al. 2004 [25]4518(40)8888
Zenker et.al 2004 [11]5734(60)889426.40
Current study363107(29)35.340.018.5
  1. PS Pulmonary stenosis, ASD – Atrial septal defect; VSD – Ventricular septal defect; HCM – Hypertrophic cardiomyopathy