Table 1.

Information for patients with Noonan syndrome

Patient Information	Patient ID	NS1	NS2	NS3
	Age at biopsy	8 years	2.38 months (0.2 years)	1.2 months (0.1 years)
	Gender	Male	Female	Male
Genotype	Gene	PTPN11 (NC_000012.12)
	Location	12q24.13
	Nucleotide substitution	c.922A>G [AAT→GAT] in exon 8	c.922A>G [AAT→GAT] in exon 8	c.181G>A [GAT→AAT] in exon 3
	Amino acid substitution	p.Asn308Asp [N308D]	p.Asn308Asp [N308D]	p. Asp61Asn [D61N]
Symptoms	Facial dysmorphism	Typical face and short neck	Typical face, webbed and short neck	Typical face, webbed and short neck
	Stature	Short stature (− 2.7 SD score)	Short stature (− 3.35 SD score)	Short stature (− 1.93 SD score)
	Congenital heart defects	Pulmonary stenosis	Ventricular septal defect and trial septal defect	Pulmonary stenosis, atrial septal defect, and hypertrophic cardiomyopathy
	Neurological manifestations	Borderline mental retardation, learning disability and ADHD *Diagnosed at 8.1 years	Lower gross movement, social and language problem *Diagnosed at 36 months	Mild ADHD *Diagnosed at 5 years

NS Noonan syndrome, PTPN11 protein tyrosine phosphatase, non-receptor type 11, SD standard deviation, ADHD attention deficit hyperactivity disorder