Deletion characteristics and clinical features of Sotos cases with partial NSD1 deletions
| ID | Deleted exons | Deletion size (kb) | Mechanism | Facial gestalt | LD | Height centile | OFC centile | Other features |
|---|---|---|---|---|---|---|---|---|
| LD, learning disability; NAHR, non-allelic homologous recombination; NHEJ, non-homologous end joining; OFC, occipito-frontal circumference; U, unknown; VUR, vesico-ureteric reflux; +, clinical feature present. | ||||||||
| COG001 | 1–2 | ∼15 | NAHR | + | + | >99.6 | >99.6 | Hydrocephalus, precocious puberty |
| COG003 | 1–2 | 23.8 | NAHR | + | + | >99.6 | 99.6 | Cryptorchidism, scoliosis |
| COG068 | 1–2 | 11.4 | NAHR | + | + | 99.6 | >99.6 | Seizures |
| COG567 | 1–2 | U | U | + | + | >99.6 | >99.6 | Craniostenosis |
| COG151 | 3–5 | U | U | + | + | >99.6 | >99.6 | Optic nerve hypoplasia, phobias |
| COG056 | 9–13 | 14.5 | NAHR | + | + | 98 | >99.6 | Scoliosis, seizures, VUR |
| COG079 | 19–21 | 7.9 | NHEJ | + | + | >99.6 | >99.6 | |
| COG280 | 22 | 2.5 | NHEJ | + | + | >99.6 | >99.6 | Scoliosis, seizures |