Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Egyptian Journal of Medical Human Genetics

Table 4 Statistical comparison of PTPN11 hotspot exon mutation rates through worldwide populations

Continent	Noonan population	Mutational rate of exons 2, 3, 4, 7, 8, 12, and 13	p value*	Reference
Africa	Egyptian	1/21 (4.7)	0.4	[10]
	Tunisian	6/19 (31.6)	0.3	[11]
	Total	7/40 (17.5)	0.8	–
Europe	Turkish	6/26 (23)	0.5	[12]
	Turkish	11/30 (36.7)	0.06	[13]
	Dutch	56/170 (32.9)	0.06	[14]
	Italian	21/71 (29.6)	0.1	[15]
	Italian	14/40 (31.5)	0.07	[16]
	Greek	17/60 (28.3)	0.2	[17]
	German	16/29 (55)	0.001**	[18]
	German	34/57 (59.6)	0.0001**	[19]
	German	23/79 (29)	0.1	[20]
	Total	198/562 (35.2)	0.03**	–
America	Brazilian	7/14 (50)	0.03**	[21]
	Brazilian	20/50 (42)	0.02**	[22]
	American	54/119 (45)	0.003**	[5]
	American	33/65 (50.7)	0.001**	[23]
	American	11/22 (50)	0.008**	[24]
	Total	125/270 (46.3)	0.001**	–
Asia	Taiwanese	13/34 (38.2)	0.04**	[25]
	Japanese	7/21 (33.3)	0.1	[26]
	Japanese	16/41 (39)	0.03**	[27]
	Japanese	18/45 (40)	0.02**	[28]
	Korean	10/18 (55.6)	0.003**	[29]
	Korean	23/59 (38.9)	0.02**	[30]
	Korean	7/14 (50)	0.03**	[31]
	Korean	16/59 (27.1)	0.2	[32]
	Total	110/291 (37.8)	0.01**	–
Total (all studies)		440/1163 (37.8)	0.01**	–
Present study	Moroccan	5/31 (16.1)	–	–