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

Location

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