Table 3.
Clinical and genetic features of patients with large deletions including BCAP31.
| Literature | This report | Total | This report | ||
|---|---|---|---|---|---|
| Patient ID | 7 Patients (7 families) | P19 Family 15 | P20 Family 16 | 9 Male patients | P21 (female) Family 17 |
| Age | 4–11m | 3y | 16m (deceased) | 4–16m | 3y |
| Variant | See Fig. 2 | NC_000023.10: g.(152886255_152976269)del | NC_000023.10:g.(152982350_153041544)del | NC_000023.10:g.(152882907_152991027)del | |
| Inheritance | 2/5 De novo | De novo | De novo | 4/7 De novo | nd |
| Affected carrier mother | nd | nr | nr | nd | nd |
| Severity of DD | 7/7 Severe to profound | Profound | Profound | 9/9 Severe to profound | Moderate |
| Walking | nr | − | nr | +2y | |
| Absent or limited language | nr | + | nr | +Rare words | |
| Seizures | 3/6 | +Spasms | − | 4/8 | − |
| Dystonia/chorea | 1/6 | − | + | 2/8 | − |
| Spasticity | nd | + | − | 1/2 | − |
| Hearing loss | 5/7 | + | − | 6/9 | + |
| OFC < −2 SD | 2/2 | − | + | 3/4 | − |
| Liver dysfunction | 7/7 Cholestasis | Reversible acute liver failure | Moderate enzyme elevation | 9/9 | Cholestasis, intermittent enzyme elevation, hepatic failure |
| Cholangiopathy on liver biopsy | 3/3 | nd | nd | 3/3 | + |
| Adrenal dysfunction | 3/7? | − | + | 4/9 | nd |
| Age at MRI | 2y | 2m, 10m | 15m | ||
| Abnormal WM | 4/5 | + | − | 5/6 | + |
| Other cMRI findings | 1 Thin CC, 1 VD | Cerebellar atrophy | Pulvinar hyperintensity | Cerebellar atrophy, VD | |
Reference transcript: NM_001139441.1.
CC corpus callosum, DD developmental delay, G Gastrostomy tube, mat maternal, nd not determined, nr non relevant, P patient, SNHL sensorineural hearing loss, VD ventricular dilatation, WM white matter.