Table 4

Severity score features related to molecular findings

 Molecular findings
NIPBL mutation+in lymphocytesNIPBL mutation+mosaicNIPBL mutation—in lymphocytes and buccal cells
Number of patients25102
Gender (M/F)14/113/70/2
Age median (min–max) (year)23.5 (10.5–54.2)15.2 (3.8–33)22.1 (13.5–31)
Birth weight mean (SD)/ median (g)2227 (703) / 21102325 (506) / 23753395 (1266) / 3395
Postnatal growth*
 >P754 (17)3 (30)2 (100)
 P25–P7515 (62)7 (70)
 <P255 (21) 
Skull growth*
 >−2SD3 (14)2 (20)1 (50)
 <−2SD and >−4SD11 (50)4 (40)1 (50)
 <−4SD8 (36)4 (40)
Limbs*
 No reduction defect19 (79)10 (100)2 (100)
 Partial reduction defect1 (4) 
 Severe reduction defect4 (17) 
Face
 Classic type20 (80)7 (70)
 Mild type5 (20)2 (20)
 Possible CdLS 1 (10)2 (100)
IQ score
 0–208 (32)2 (20)
 21–358 (32)4 (40)1 (50)
 36–505 (20)3 (30)
 51–704 (16)1 (10)
 71–85  1 (50)
Total severity score*Nonsense mutationMissense mutationNonsense mutationMissense mutation
 Classic type12 (86)3 (50)5 (56)0
 Mild type1 (7)1 (17)4 (44)1 (100)1
 Possible CdLS1 (7)2 (33)1
  • Data are displayed as n (%) unless stated otherwise.

  • *Reliable data on some patients missing.

  • CdLS, Cornelia de Lange syndrome.