Table 1.
Clinical Description of Affected Individuals from Families ARID-628 and ARID-49
| ARID-628-IV-4 | ARID-628-IV-5 | ARID-49-IV-1 | ARID-49-IV-2 | ARID-49-IV-3 | |
|---|---|---|---|---|---|
| Family Information | |||||
| Consanguineous | + | + | + | + | + |
| Multiplex | + | + | + | + | + |
| Number of affected individuals | 2 | 2 | 3 | 3 | 3 |
| Extended family history of ID and/or epilepsy | + | + | - | - | - |
| Clinical Information | |||||
| Age at examination | 16 years | 14 years | 30 years | 25 years | 17 years |
| Sex | female | male | male | female | female |
| Intellectual disability | + | + | + | + | + |
| Speech | 1–2 words | 1–2 words | full sentences | 2–3 words | single words |
| Hearing | normal | normal | normal | normal | normal |
| Daily activities (eating, toilet) | dependent | dependent | Independent | dependent | dependent |
| Dysmorphic facies | - | - | - | - | - |
| Hypotonia | + | + | - | - | - |
| Microcephaly | - | - | - | - | - |
| Seizures (partial complex) | controlled | controlled | - | - | - |
| Electroencephalogram | normal | N/A | N/A | N/A | N/A |
| Medication | Carbamazepine | Carbamazepine | |||
| Spasticity | - | - | - | - | - |
| Visual abnormalities | - | - | - | - | - |
| Head circumference | 52.4 cm | 50.3 cm | 51.7 cm | 51.6 cm | 50.4 cm |
| Other systemic features | mitral valve prolapse | - | - | - | - |
| Brain MRI | normal | N/A | N/A | N/A | normal |
| Homozygous mutation (hg19 coordinates) | chr1:240,256,799insG | chr1:240,256,799insG | chr1:240,370,627delA | chr1:240,370,627delA | chr1:240,370,627delA |
| cDNA mutation (NM_020066.4) | c.1394_1395insC | c.1394_1395insC | c.2515_2515delA | c.2515_2515delA | c.2515_2515delA |
| Protein alteration (NP_064450.3) | p.Ala466Glyfs∗483 | p.Ala466Glyfs∗483 | p.Thr839Argfs∗848 | p.Thr839Argfs∗848 | p.Thr839Argfs∗848 |
N/A indicates “not assessed.”