Phenotypic comparison between patients with NSD1 point mutations and those with deletions involving NSD1
| Mutation | Deletion | p 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 patients | 5 | 21 | |
| Sex ratio (male:female) | 2:3 | 15:6 | 0.21 |
| 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) | 5/5 | 18/21 | 0.90 |
| Peak height (SDS) | 3.3 (0.5) (n=5) | 2.2 (1.2) (n=21) | 0.007 |
| Overgrowth (>6 years) | 2/5 | 2/11 | 0.37 |
| Peak height (SDS) | 1.9 (1.3) (n=5) | 0.9 (1.2) (n=11) | 0.14 |
| Advanced bone age (=6 years) | 1/1 | 10/14 | 0.73 |
| Premature eruption of teeth | 2/3 | 15/17 | 0.95 |
| Performance | |||
| Mental retardation (=6 years) | 3/3 | 9/9 | - |
| IQ/DQ | 60±10 (n=3) | 45±20 (n=9) | 0.26 |
| Mental retardation (>6 years) | 3/4 | 5/5 | 0.91 |
| IQ/DQ | 78±12 (n=4) | 57±12 (n=5) | 0.03 |
| Hypotonia | 3/5 | 7/21 | 0.58 |
| Hyperreflexia | 1/3 | 6/18 | 0.75 |
| Minor anomaly | |||
| Craniofacial features | 5/5 | 21/21 | - |
| 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) |
| Hypertelorism | (4/4) | (18/21) | (0.58) |
| 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 features | 5/5 | 20/21 | 0.81 |
| Scoliosis | (1/5) | (5/21) | (0.68) |
| Large hands and feet | (5/5) | (20/21) | (0.81) |
| Major anomaly | |||
| Brain anomaly | 2/5 | 12/19 | 0.33 |
| Large ventricle/brain atrophy | (2/5) | (5/19) | (0.46) |
| Agenesis/hypoplasia of CC | (0/5) | (7/19) | (0.15) |
| Cardiovascular anomaly | 0/5 | 12/21 | 0.03 |
| PDA | (0/5) | (4/21) | (0.40) |
| ASD | (0/5) | (2/21) | (0.65) |
| PDA and ASD | (0/5) | (6/21) | (0.24) |
| Urinary anomaly | 0/5 | 7/13 | 0.05 |
| Hypoplastic kidney | (0/5) | (1/13) | (0.72) |
| Hydronephrosis | (0/5) | (1/13) | (0.72) |
| Hydronephrosis and VUR | (0/0) | (4/5) | (0.23) |
| VUR | (0/0) | (1/5) | (0.72) |
| Others | |||
| Neonatal asphyxia | 1/5 | 3/21 | 0.60 |
| Neonatal hypoglycaemia | 1/5 | 4/21 | 0.69 |
| Neonatal jaundice | 0/5 | 11/21 | 0.04 |
| Recurrent afebrile convulsions | 0/5 | 13/21 | 0.02 |
| Malignancy | 0/5 | 1/21 | 0.81 |