Table 2.
Common Clinical Features in Individuals with Nonsense Mutations in KAT6A
| 1-II-1 | 2-II-2 | 3-II-1 | 4-II-1 | ||
|---|---|---|---|---|---|
| Karyotype | 46,XY | 46,XX | 46,XY | 46,XX | |
| Age at last examination | 3 years 3 months | 2 years 11 months | 5 years | 4 years | |
| Neurological | |||||
| Microcephaly cm (Z-score) |
Birth: | 32.8 (−2.1) | 34.0(−2.1) | unknown | 32.0(−3.0) |
| Last Exam | 47(−2.33) | 45.8(−2.78) | 48.0(−2.52) at 4.5 years |
46.5(−2.81) | |
| Length/Height cm (Z-score) | Birth: | 48.3(−1.7) | 45(−3.1) | 47.6 (−2.0) | unknown |
| Last Exam | 92.8(−1.1) | 84.3(−2.6) | 97.0(−2.6) at 4.5 years |
98.9(−1.4) | |
| Weight kg (Z-score) |
Birth | 3.08(−1.3) | 2.8(−1.8) | 1.87 (−3.3) | 2.95(−1.5) |
| Last Exam | 14.85(0) | 10.4(−2.86) | 16.92 (−0.7) 4.5 years |
14.6(−1.3) | |
| Developmental Delay (Gross motor) |
Pull to stand at 2.5 years | Rolling over: 4 mo, Sat unassisted: 1yr, Pull to stand at 2.9 years | Sat unassisted: 1 year, walked:4.5 years | Sat unassisted:1 year, Pull to stand: 1.5 years | |
| Intellectual disability | Absent speech, no words | Absent speech, no words | Absent speech, no words | Absent speech, no words | |
| Social/Emotional development | Social smile at 4 months | Social smile at 3 months | Social smile at 3 months | Social smile at 3 months | |
| Disturbances in sleep behavior | sleep apnea | NE | NE | sleep disorder-insomnia type | |
| Facial | |||||
| Nasal anomalies | Prominent bridge, full nasal tip | Prominent root | short nose, bifid tip | lateral nasal build-up | |
| Cleft palate | − | + | − | − | |
| Dental anomalies | − | + | + | − | |
| Other | Rosebud mouth | Large upper canines | Lower teeth are small and peg-shaped | − | |
| Ocular | |||||
| Strabismus | + | + | + | − | |
| Epicanthal fold | + (left) | − | + (bilateral) | − | |
| Optic Nerve Atrophy | NE | NE | + | − | |
| Ptosis | − | − | + | + (left only) | |
| Myopia | − | − | − | + | |
| Cardiac | |||||
| ASD | + | − | NE | + | |
| VSD | − | + | NE | − | |
| Pulmonary | |||||
| Broncho- or laryngomalacia | + | − | − | − | |
| Chronic Lung Disease | + | + | − | − | |
| Gastrointestinal | |||||
| Reflux | + | + | + | − | |
| Feeding Difficulty | + a | + a | + | − | |
| Intestinal Malrotation | − | + | − | − | |
| Genitourinary | |||||
| Hydronephrosis | − | + | − | − | |
| Cryptorchidism | − | NA | + | NA | |
| Hypospadias | − | − | − | − | |
| Musculoskeletal | |||||
| Hypotonia | + | − | + (axial) | + | |
| Brachydactyly | middle finger/total hand length: 25th percentile, overlapping toes 2nd over 3rd |
− | Brachydactyly | − | |
| Dystonia | + | − | − | + | |
| Other | L. hand flexed PIP | prenatal growth restriction | |||
NE, not evaluated; ASD, atrial septal defect; VSD, ventricular septal defect.
a
With gastrointestinal tube dependence. For weight and length/height, Z scores were calculated using the CDC charts for children ages 2–20. Head circumference at birth was calculated using CDC charts for infants. For head circumference in children older than 2, Z score was calculated based on published data.10