Table 1 Clinical and molecular features of the four patients with interstitial 7q31.1 copy number variations disrupting IMMP2L gene

IMMP2L exons (n)

Ex3

Ex1, Ex2, Ex3

Ex1, Ex2, Ex3

Ex6

Gain/Loss

Loss

Loss

Loss

Gain

Size

269.6 kb

152.7 kb

249.9 kb

370.7 kb

Inheritance

Paternal

Paternal

Paternal

Paternal

Sex

F

M

M

M

Age at report

14 months

5

9

17 months

Birth weight (g)

3570

2830

n.a.

3420

Birth length (cm)

50

48

n.a

48

Birth OFC (cm)

34.5

35

n.a.

31

Weight (kg)

9.5 kg (25^th)

19.6 kg (75^th)

40.1 Kg (97^th)

9.3 (<5^th)

Height (cm)

78 cm (50^th)

102 cm (3^rd)

136.34 (75^th)

78.5 (20^th),

OFC (cm)

45.5 cm (25^th)

52 cm (25-50^th)

46.7 (25^th)

Brain/CNS malformations

-

-

-

-

Psichomotor delay

-

+

+

+

Language delay

-

+

+

+

Behaviour problems

-

Hetero-aggressive, hyperphagia

-

Epilepsy

-

+

+

-

Hypotonic

-

Paratonia

+

+

Autism

-

Some autistic symptoms

-

-

Skull abnormalities

-

-

-

-

Skeletal

-

Brachydactily, flat feet

Scoliosis

-

Other malformations

Nystagmus

-

-

-

Other dysmorphic features

Mild facial dysmorphism, frontal bossing

Minor facial, small hands and feet

Arched palate, large central incisors

Frontal bossing, hypertelorism, saddle back nose, inverted buccal fissure, modest micrognathia

Others

Negative FRMD7 gene analysis

-

-

Negative MID1 gene analysis