Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

Table 1 Clinical features of our patients

Patient	1	2	3	4	5	6	7	8	9	10
Sex	M	F	F	M	M	M	F	M	M	F
Age	1Y	15 M	10Y	11 M	10Y	5 M	9Y	10 M	4Y	14 M
Height(cm)	70	67	114.4	67	100.2	57	104.5	60.3	80	53
Karyotype	46,XY	46,XX	46,XX	46,XY	46,XY	46,XY	46,XX	46,XY	46,XY	46,XX
Congenital heart defect
PVS	+	–	–	–	–	–	+	–	–	–
ASD	+	+	–	+	–	–	–	+	+	–
PDA	–	–	–	–	–	–	–	–		–
VSD	–	–	–	–	–	–	–	–	+	–
Mitral or tricuspid valve defects	–	+	–	–	–	–	–	–	–	–
Hypertrophic cardiomyopathy (HCM)	–	–	+	–	–	–	–	–	–	–
Short stature (<3rd centile)	–	+	+	–	+	–	+	+	+	+
Short webbed neck	–	–	+	–	–	–	–	–	–	–
Chest deformity	–	–	+	–	–	+	–	+	–	–
Characteristic facies
Low-set posteriorly rotated ears with fleshy helices	+	+	+	+	+	+	+	+	+	+
Downslanting palpebral fissures	+	+	+	–	–	+	–	+	+	–
Palpebral ptosis	–	+	+	–	–	+	–	+	+	–
Wide-spaced eyes	–	+	+	+	+	+	+	+	+	–
Epicanthal folds	–	–		–	–		–	–	–	–
Deeply grooved philtrum	–	+	–	–	–	+	+	+	–	–
High wide peaks of the vermilion	–	+	+	–	–	+	+	+	–	–
Low posterior hairline	–	–	–	–	+		+	–	–	–
Thick curly hair or thin sparse hair	–	–	+	–	–	+	+	–	–	+
Micrognathia		+	–	–	–	+	–	+	–	+
Macrocephaly	–	–	–	–	–	–	+	–	–	–
Malocclusion	–	–	+	–	–	–	–	–	–	–
Excess nuchal skin	+	–	–	–	–	–	+	–	–	–
Others
Developmental delay or cognitive deficit	+	+	–	+	+	+	+	+	+	+
Lymphatic dysplasias	–	–	–	–	–	–	–	–	–	–
Feeding difficulties	+	+	–	–	–	+	–	+	–	+
Renal anomaly	–	–	–	–	–	–	–	–	–	–
Increased bleeding tendency	–	–	–	–	–	–	–	–	–	–

ASD atrial septal defect, VSD ventricular septal defect, HCM hypertrophic cardiomyopathy, PDA patent ductus arteriosus, PVS pulmonary valve stenosis
+present, −not present

ISSN: 1755-8794