Table 1.
Summary of clinical characteristics associated with (de novo) SATB1 variants
|
All individuals |
Individuals with PTVs and (partial) gene deletions |
Individuals with missense variants |
||||
|---|---|---|---|---|---|---|
| % | Present/total assessed | % | Present/total assessed | % | Present/total assessed | |
| Neurologic | ||||||
| Intellectual disability | 90 | 28/31 | 80 | 8/10 | 95 | 20/21 |
| Normal | 10 | 3/31 | 20 | 2/10 | 5 | 1/21 |
| Borderline | 0 | 0/31 | 0 | 0/10 | 0 | 0/21 |
| Mild | 26 | 8/31 | 60 | 6/10 | 10 | 2/21 |
| Moderate | 10 | 3/31 | 10 | 1/10 | 10 | 2/21 |
| Severe | 19 | 6/31 | 0 | 0/10 | 29 | 6/21 |
| Profound | 19 | 6/31 | 0 | 0/10 | 29 | 6/21 |
| Unspecified | 16 | 5/31 | 10 | 1/10 | 19 | 4/21 |
| Developmental delay | 97 | 35/36 | 100 | 12/12 | 96 | 23/24 |
| Motor delay | 92 | 34/37 | 92 | 11/12 | 92 | 23/25 |
| Speech delay | 89 | 32/36 | 83 | 10/12 | 92 | 22/24 |
| Dysarthria | 30 | 6/20 | 9 | 1/11 | 56 | 5/9 |
| Epilepsy | 61 | 22/36 | 18 | 2/11 | 80 | 20/25 |
| EEG abnormalities | 79 | 19/24 | 29 | 2/7 | 100 | 17/17 |
| Hypotonia | 76 | 28/37 | 42 | 5/12 | 92 | 23/25 |
| Spasticity | 28 | 10/36 | 0 | 0/12 | 42 | 10/24 |
| Ataxia | 22 | 6/27 | 17 | 2/12 | 27 | 4/15 |
| Behavioral disturbances | 71 | 24/34 | 58 | 7/12 | 77 | 17/22 |
| Sleep disturbances | 41 | 12/29 | 27 | 3/11 | 50 | 9/18 |
| Abnormal brain imaging | 55 | 17/31 | 43 | 3/7 | 58 | 14/24 |
| Regression | 17 | 6/35 | 8 | 1/12 | 22 | 5/23 |
| Growth | ||||||
| Abnormalities during pregnancy | 24 | 8/33 | 27 | 3/11 | 23 | 5/22 |
| Abnormalities during delivery | 32 | 10/31 | 55 | 6/11 | 20 | 4/20 |
| Abnormal term of delivery | 6 | 2/31 | 10 | 1/10 | 5 | 1/21 |
| Preterm (<37 weeks) | 6 | 2/31 | 10 | 1/10 | 5 | 1/21 |
| Postterm (>42 weeks) | 0 | 0/31 | 0 | 0/10 | 0 | 0/21 |
| Abnormal weight at birth | 16 | 5/32 | 22 | 2/9 | 13 | 3/23 |
| Small for gestational age (<p10) | 9 | 3/32 | 11 | 1/9 | 9 | 2/23 |
| Large for gestational age (>p90) | 6 | 2/32 | 11 | 1/9 | 4 | 1/23 |
| Abnormal head circumference at birth | 7 | 1/14 | 17 | 1/6 | 0 | 0/8 |
| Microcephaly (<p3) | 0 | 0/14 | 0 | 0/6 | 0 | 0/8 |
| Macrocephaly (>p97) | 7 | 1/14 | 17 | 1/6 | 0 | 0/8 |
| Abnormal height | 21 | 6/29 | 9 | 1/11 | 28 | 5/18 |
| Short stature (<p3) | 14 | 4/29 | 0 | 0/11 | 22 | 4/18 |
| Tall stature (>p97) | 7 | 2/29 | 9 | 1/11 | 6 | 1/18 |
| Abnormal head circumference | 23 | 7/31 | 11 | 1/9 | 27 | 6/22 |
| Microcephaly (<p3) | 23 | 7/31 | 11 | 1/9 | 27 | 6/22 |
| Macrocephaly (>p97) | 0 | 0/31 | 0 | 0/9 | 0 | 0/22 |
| Abnormal weight | 48 | 13/27 | 11 | 1/9 | 67 | 12/18 |
| Underweight (<p3) | 22 | 6/27 | 11 | 1/9 | 28 | 5/18 |
| Overweight (>p97) | 26 | 7/27 | 0 | 0/9 | 39 | 7/18 |
| Other phenotypic features | ||||||
| Facial dysmorphisms | 67 | 24/36 | 64 | 7/11 | 68 | 17/25 |
| Dental/oral abnormalities | 71 | 24/34 | 55 | 6/11 | 78 | 18/23 |
| Drooling/dysphagia | 38 | 12/32 | 25 | 3/12 | 45 | 9/20 |
| Hearing abnormalities | 7 | 2/30 | 18 | 2/11 | 0 | 0/19 |
| Vision abnormalities | 55 | 17/31 | 73 | 8/11 | 45 | 9/20 |
| Cardiac abnormalities | 19 | 6/32 | 27 | 3/11 | 14 | 3/21 |
| Skeleton/limb abnormalities | 38 | 13/34 | 18 | 2/11 | 48 | 11/23 |
| Hypermobility of joints | 30 | 8/27 | 30 | 3/10 | 29 | 5/17 |
| Gastrointestinal abnormalities | 53 | 17/32 | 27 | 3/11 | 67 | 14/21 |
| Urogenital abnormalities | 17 | 5/30 | 0 | 0/11 | 26 | 5/19 |
| Endocrine/metabolic abnormalities | 30 | 9/30 | 0 | 0/11 | 47 | 9/19 |
| Immunological abnormalities | 32 | 8/25 | 25 | 2/8 | 35 | 6/17 |
| Skin/hair/nail abnormalities | 24 | 8/34 | 9 | 1/11 | 30 | 7/23 |
| Neoplasms in medical history | 0 | 0/34 | 0 | 0/11 | 0 | 0/23 |