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. 2014 Aug 13;7:54. doi: 10.1186/s13039-014-0054-y

Table 1.

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

  Patient 1 Patient 2 Patient 3 Patient 4
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 (25th)
 19.6 kg (75th)
 40.1 Kg (97th)
 9.3 (<5th)
Height (cm)
 78 cm (50th)
 102 cm (3rd)
 136.34 (75th)
 78.5 (20th),
OFC (cm)
 45.5 cm (25th)
 52 cm (25-50th)
  
 46.7 (25th)
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