Table 3.

Comparison of PTPN11 pathogenic variant data and their association with heart defects in our study and in other NS studies

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

PS Pulmonary stenosis, ASD – Atrial septal defect; VSD – Ventricular septal defect; HCM – Hypertrophic cardiomyopathy