Table 1

Phenotypic comparison between patients with NSD1 point mutations and those with deletions involving NSD1

MutationDeletionp value
    The denominators indicate the number of patients examined for the presence or absence of each feature, and the numerators represent the number of patients assessed to be positive for that feature. Thus, the differences between the denominators and numerators denote the numbers of patients evaluated to be negative for that feature.
Total number of patients521
Sex ratio (male:female)2:315:60.21
Age range (years)9.8 (6.5–17.1)7.5 (3.0–21.4)0.35
Growth and maturation
    Birth length (SDS)1.5 (1.4) (n=3)0.7 (1.0) (n=19)0.25
    Birth weight (SDS)1.4 (0.8) (n=5)0.6 (1.0) (n=21)0.14
    Birth OFC (SDS)2.1 (0.8) (n=3)0.9 (1.2) (n=20)0.10
        Gestational age (week)40 (38–41) (n=5)40 (36–42) (n=18)0.36
    Overgrowth (<6 years)5/518/210.90
        Peak height (SDS)3.3 (0.5) (n=5)2.2 (1.2) (n=21)0.007
    Overgrowth (>6 years)2/52/110.37
        Peak height (SDS)1.9 (1.3) (n=5)0.9 (1.2) (n=11)0.14
    Advanced bone age (=6 years)1/110/140.73
    Premature eruption of teeth2/315/170.95
    Mental retardation (=6 years)3/39/9-
        IQ/DQ60±10 (n=3)45±20 (n=9)0.26
    Mental retardation (>6 years)3/45/50.91
    IQ/DQ  78±12 (n=4)57±12 (n=5)0.03
Minor anomaly
    Craniofacial features5/521/21-
        Coarse appearance(5/5)(20/20)(-)
        Large head(5/5)(18/20)(0.63)
        Prominent forehead(5/5)(20/20)(-)
        Receding frontal hair line(3/4)(13/17)(0.77)
        Downward slanting fissures(4/4)(17/21)(0.47)
        Large ears(4/5)(16/20)(0.75)
        High arched palate(3/3)(17/18)(0.86)
    Other features5/520/210.81
        Large hands and feet(5/5)(20/21)(0.81)
Major anomaly
    Brain anomaly2/512/190.33
        Large ventricle/brain atrophy(2/5)(5/19)(0.46)
        Agenesis/hypoplasia of CC(0/5)(7/19)(0.15)
    Cardiovascular anomaly0/512/210.03
        PDA and ASD(0/5)(6/21)(0.24)
    Urinary anomaly0/57/130.05
        Hypoplastic kidney(0/5)(1/13)(0.72)
        Hydronephrosis and VUR(0/0)(4/5)(0.23)
    Neonatal asphyxia1/53/210.60
    Neonatal hypoglycaemia1/54/210.69
    Neonatal jaundice0/511/210.04
    Recurrent afebrile convulsions0/513/210.02