Table 1.
Comparison of our patients’ features to individuals reported with TCF4 mutations
| Feature | Summary of reported patients [27–29, 31, 43–45, 49–61] | Our patients | |||
|---|---|---|---|---|---|
| No. reported with feature | Total reported (n = 121) | % | No. with feature | Total (n = 3) | |
| Pitt Hopkins facial gestalt | 109 | 114 | 96 | 0 | 3 |
| Deep set eyes | 85 | 103 | 83 | ||
| Protrusion of mid/lower face | 96 | 105 | 91 | ||
| Marked nasal root | 90 | 105 | 86 | ||
| Broad/beaked bridge | 99 | 106 | 93 | ||
| Flared nostrils | 90 | 106 | 85 | ||
| Large mouth | 101 | 109 | 93 | ||
| Tented upper lip | 102 | 107 | 95 | ||
| Everted lower lip | 94 | 107 | 88 | ||
| Hands | |||||
| Long fingers | 26 | 46 | 57 | 1 | 3 |
| Single palmar crease | 52 | 88 | 59 | 3 | 3 |
| Prominent finger pads | 31 | 69 | 45 | 2 | 3 |
| Additional palmar creases | 5 | 32 | 16 | 0 | 3 |
| Thumb ankylosis | 10 | 68 | 15 | 0 | 3 |
| Feet | |||||
| Pes planus | 15 | 25 | 60 | 1 | 1 |
| Pes cavus | 4 | 22 | 18 | 0 | 1 |
| Overriding toes | 15 | 38 | 39 | 0 | 1 |
| Talipes equivarus2 | 6 | 24 | 25 | 0 | 3 |
| Genitalia | |||||
| Abnormal | 21 | 57 | 37 | 0 | 1 |
| Cryptorchidism | 14 | 42 | 33 | 0 | 1 |
| Spine | |||||
| Scoliosis | 15 | 79 | 19 | 0 | 3 |
| Ophthalmological findings | 73 | 104 | 70 | ||
| Strabismus | 65 | 113 | 58 | 0 | 3 |
| Myopia | 43 | 86 | 50 | 2 | 3 |
| Gastrointestinal findings | 17 | 26 | 65 | 0 | 3 |
| Constipation | 66 | 101 | 65 | ||
| GER | 8 | 44 | 18 | ||
| Hirschsprung disease | 1 | 74 | 1 | ||
| Growth findings | 0 | 3 | |||
| Height < 2 SD | 19 | 80 | 24 | ||
| Weight < 2 SD | 9 | 58 | 16 | ||
| OFC < − 2 SD | 17 | 65 | 26 | ||
| OFC on −2 SD | 13 | 49 | 27 | ||
| Microcephaly | 56 | 113 | 50 | ||
| Developmental findings | |||||
| Severe ID or DD | 117 | 119 | 98 | 0 | 3 |
| Hypotonia | 69 | 80 | 86 | ||
| Delayed walking | 81 | 83 | 98 | 0 | 1 |
| Walking achieved | 53 | 65 | 82 | 3 | 3 |
| Ataxic gait | 44 | 68 | 65 | 0 | 3 |
| Absent language or <5 words | 105 | 108 | 97 | 0 | 3 |
| Movement anomalies | 81 | 106 | 76 | 0 | 3 |
| Arm flapping | 28 | 47 | 60 | ||
| Hand biting/nibbling | 17 | 38 | 45 | ||
| Repetitive finger movements | 12 | 25 | 48 | ||
| Repetitive wrist movements | 10 | 21 | 48 | ||
| Hand wringing | 11 | 24 | 46 | ||
| Head stereotypies | 11 | 26 | 42 | ||
| Median line stereotypies | 14 | 35 | 40 | ||
| Behavioral findings | 0 | 3 | |||
| Smiling/happy | 86 | 99 | 87 | ||
| Harm to self | 21 | 59 | 36 | ||
| Harm to others | 12 | 61 | 20 | ||
| Sleep disturbances | 15 | 63 | 24 | ||
| Anxiety/agitation | 29 | 49 | 59 | ||
| Unmotivated laughing | 19 | 30 | 63 | ||
| Breathing anomalies | 72 | 116 | 62 | 0 | 3 |
| Hyperventilation | 54 | 99 | 55 | ||
| Apnoea | 35 | 65 | 54 | ||
| Cyanosis | 11 | 36 | 31 | ||
| Loss of consciousness | 5 | 34 | 15 | ||
| Chronic hypoxia | 3 | 31 | 10 | ||
| Finger clubbing | 3 | 33 | 9 | ||
| Seizures (history) | 44 | 113 | 39 | 0 | 3 |
| Abnormal head MRI | 59 | 95 | 62 | 0 | 1 |
| Hypoplasia or agenesis of cc | 36 | 83 | 43 | ||
| Ventriculomegaly | 24 | 71 | 34 | ||
| Abnormal myelination or reduced white matter | 5 | 29 | 17 | ||
| Cortical atrophy | 6 | 37 | 16 | ||
| Minor posterior fossa anomalies | 6 | 22 | 27 | ||
| Dentate nuclei hyperintensity | 4 | 25 | 16 | ||
| Small hippocampi | 11 | 41 | 27 | ||
| Temporal lobe hyperintensity | 13 | 51 | 25 | ||
| Frontal lobe hypoplasia | 3 | 30 | 10 | ||
| Large caudate nuclei | 4 | 45 | 9 | ||
| Normal birth parameters | 36 | 41 | 88 | 1 | 1 |