Table 1 Main clinical features in individuals with pathogenic or likely pathogenic variants in CTCF
LGD variants n = 8 | Missense/in-frame variants n = 26 | Published variantsan = 7 | Total intragenic | Large deletionsbn = 5 | |
|---|---|---|---|---|---|
IUGR/SGA | 2/8 | 8/25 | 5/7 | 37% | 0/5 |
Feeding difficulties/FTT | 6/8 | 17/23 | 7/7 | 78% | 3/5 |
Short stature | 1/8 | 5/25 | 5/7 | 27% | 2–3/5c |
Microcephaly | 3/7 | 7–9/22 | 7/7 | 52% | 2–3/5c |
Walking age | 14–32 months | 12–36 months | 14 months to >3.5 years | 23 months to >4.2 years | |
Age first words | 12 months–4 years | 12 mo—no speech | 12 months to >3.5 years | 18 months to >4.2 years | |
Unspecified DD/ID | 0/8 | 7/25 | 1/7 | 20% | 0/5 |
Mild/borderline DD/ID | 5/8 | 9/25 | 3/7 | 42% | 2/5 |
Moderate ID | 3/8 | 6/25 | 1/7 | 25% | 3/5 |
Severe ID | 0/8 | 3/25 | 2/7 | 12% | 0/5 |
Behavioral anomalies | 5/6 | 19/23 | 4/7 | 77% | 4/5 |
Seizures | 1/8 | 3/23 | 0/7 | 10% | 1/5 |
Cardiac defects | 2/6 | 9/23 | 3/7 | 38% | 0/5 |
Palatal anomalies | 3/8 | 9/23 | 2/7 | 36% | 0/5 |
Hearing loss | 0/8 | 10/23 | 0/7 | 26% | 1/5 |
Vision anomalies | 6/8 | 9/19 | 6/7 | 61% | 3/5 |
Recurrent infections | 2/7 | 12/23 | 3/7 | 45% | 1/5 |
