Table A1.
Summary of Clinical Data from Patients with Mutations in JARID1C[Note]
|
Family N017 (Ala388Pro) |
Family L017 (Leu731Phe) |
Family D034 (R68fsX7) |
Family P018 (Arg694Ter) |
Family N063 (Trp1288Ter) |
Family D029 (Glu698Lys) |
Family A034 (Asp402Tyr) |
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| Characteristic | III:14 | III:2 | IV:4 | III:4 | III:5 | III:6 | IV:1 | II:2 | II:4 | II:1 | II:2 | II:1 | II:2 | II:3 | II:1 | II:3 | III:1 | III:2 | III:4 | II:4 |
| Body height (in cm) [percentile] | 165 (<3rd) | 154 [<3rd] | 171 [∼25th] | 177 [25th–50th] | 165 [<3rd] | 166 [<3rd] | 153 [<3rd] | 167 [∼3rd] | 168 [∼3rd] | 105 (at the age of 6.5 years)[<3rd] | 91 (at the age of 4.5 years)[<3rd] | 158 [<3rd] | 154 [<3rd] | 150 [<3rd] | 169 [∼3rd] | 169 [∼3rd] | 154 [<3rd] | 156 [<3rd] | Not known | Normal height |
| Head circumference (in cm) [percentile] | 53.8 [∼ 3rd] | 53.5 [∼3rd] | 54 [∼3rd] | 58.5 [∼97th] | 56.3 [50th] | 56.6 [50th] | 52 [<3rd] | 61 [>97th] | 58 [∼97th] | 52 (at the age of 6.5 years)[25–50th] | 52 (at the age of 4.5 years)[50th] | 53 [3rd] | 54 [3rd] | 51 [<3rd] | 58 [∼97th] | 59 [∼97th] | 57 [∼75th] | 55 [∼25th – 50th] | Not known | 62 [>97th] |
| MR (IQ) | + | + | + (70) | + (25) | + | + | + (32) | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Pronounced verbal deficiency | − | − | + | + | + | + | + | + | + | − | − | − | − | − | + | + | + | + | − | − |
| Spasticity | − | − | − | + | + | + | + | − | − | − | − | + | + | + | − | − | − | − | − | − |
| Epilepsy | − | − | − | − | − | − | − | − | − | − | − | + | + | − | − | − | − | − | − | − |
| Pain insensitivity | − | − | − | − | − | − | − | + | + | − | − | − | − | − | − | − | − | − | − | − |
| Aggressiveness | − | − | − | + | + | + | + | − | + | − | − | − | + | − | − | − | − | − | − | − |
| Strabismus | − | − | − | + | + | + | + | + | + | − | + | + | − | + | − | − | − | − | − | − |
| Hypermetropia | − | − | − | − | − | − | − | − | − | − | − | + | + | + | − | − | − | − | − | − |
| Body hair | Normal | Normal | Normal | Sparse | Abundant | Abundant | Normal | Normal | Sparse | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
| Additional features | Small forehead, small eye lashes, prognathism, small testes | Flat philtrum, thin upper lip, prognathism, small penis | Small, deep-set eyes, upslanting palpebral fissures, micrognathia | Maxillary hypoplasia | Maxillary hypoplasia | Maxillary hypoplasia | Maxillary hypoplasia | Diastema, gallstones | Gallstones | … | Myopia | Diastema, cryptorchism, alopecia areata | Diastema, cryptorchism | Diastema, unstable mood disorder | … | Macroorchism | … | … | Drowned at the age of 12 years | … |
Note.— Features that have been reported as being present in an individual are indicated with a plus sign (+); features that were absent are shown with a minus sign (−). For those patients for whom the IQ was measured, the value is given in parentheses. All patients listed in the table are male, except for patient II:3 from family N063.