Table 1.
Clinical information on patients with ARGLU1 and EFNB2 variants
| Case number | Pt1 | Pt2 | Pt3 | Pt4 (DECIPHER 280488) |
|---|---|---|---|---|
| Sex | Male | Female | Male | Female |
| Variant | chr13:106,624,717-107,768,458 1.1 Mb del | chr13:104,114,620-108,292,078 4.1 Mb del | chr13:107211843delA; NM_018011:c.509delA; p.K170fs frameshift | chr13:106,884,343-110,711,191 3.8 Mb del |
| Confirmation method | FISH | N/A | PCR + Sanger | FISH |
| Affected genes | ARGLU1, EFNB2 | DAOA, FAM155A, ARGLU1, EFNB2 | ARGLU1 | ABHD13, ARGLU1, EFNB2, FAM155A, IRS2, LIG4, MYO6, TNFSF13B |
| Inheritance | De novo | Unknown | De novo | De novo |
| Parental studies | FISH | N/A | PCR + Sanger | FISH |
| Developmental delay/intellectual disability | + | + | + | + |
| Developmental regression | + | N/A | N/A | N/A |
| Autistic spectrum | + | N/A | N/A | N/A |
| Abnormal movement | N/A | N/A | + | N/A |
| Cerebellar hypoplasia | N/A | N/A | + | N/A |
| Oculomotor apraxia | N/A | N/A | + | N/A |
| Seizures/epilepsy | N/A | + | N/A | N/A |
| Other | N/A | Horse shoe kidney/ectopic kidney, dysmorphic features | N/A | N/A |
N/A not available
Candidate genes are indicated in bold