Table 1 Characteristics of children with ACAN variant treated with growth hormone

Gender

Female

Male

Male

Birth weight (kg)

3

3

3.5

Birth height (cm)

50

51

50

ACAN mutation

c.7465 T > C^a

c.7465 T > C^a

c.7465 T > C^a

Protein changes

p.Gln2364Pro

p.Gln2364Pro

p.Gln2364Pro

First visit

Age (y)

5.6

7.8

6.4

Height (cm)

104.5

122.5

100.5

HSDS

− 2.09

− 0.88

− 3.74

Weight (kg)

18

25

17.5

BMI (kg/m²)

16.48

16.66

17.33

Peak growth hormone (ng/ml)

12.1

ND

15.1

IGF1(ng/ml)

290

200

148

IGFBP3 (μg/ml)

4.15

7.96

3.43

Bone age (y)

6.5

9.5

6