Table 1. Clinical features of our patient compared with previously reported cases of 16p11.2 deletions and patients with classic JNCL.
| Large 16p11.2 deletion | Common proximal 16p11.2 deletion | Atypical 16p11.2 deletion | Classic JNCL (1.02 kb deletion on CLN3 gene) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Clinical spectrum | Ballif et al., 20074 | Bochukova et al., 20107 | Bochukova et al., 20107 | Hanson et al., 20108 | Sampson et al., 20109 | Sampson et al., 20109 | Ghebranious et al., 20071 Bijlsma et al. 20092 | Bachmann-Gagescu et al., 20106 Baarge-Schaapveld et al., 2011 | Haltia, 200315 | Our patient |
| Progression of vision loss until blindness | na | na | na | Patient too young to evaluate manifestations reliably | na | na | − | − | + (Onset ∼2–5 years) | + (Onset 9 years) |
| Deterioration in cognitive skills, speech and mobility | na | na | na | na | na | − | − | + | + | |
| Seizures | na | na | na | + | na | + (Onset 1 year) | + | + (Onset 9–18 years) | − | |
| Premature death | na | na | na | na | na | − | − | + | na | |
| Behavioral problems, extrapyramidal signs, and sleep disturbance | na | na | na | + | + | + | + | + (Onset >10 years) | + | |
| Attention-deficit disorder | na | na | na | + | na | + | + | + | ||
| Autism spectrum disorder | na | na | na | na | na | + | + | − | − | |
| Developmental delay (learning difficulties/intellectual disability, delayed language development) | + | + | + | + | na | + | + | − | + | |
| Unusual facial morphology | na | na | na | + | na | − | + | − | − | |
| Obesity | + | + | + | − | − | + | + | − | + | |
| Neonatal hypotonia | na | na | na | na | na | − | + | − | + | |
| Congenital anomalies of the kidney and urinary tract | na | na | na | + | na | − | + | − | − | |
| Other major finding | na | na | na | +a | +b | − | − | − | − | |
Abbreviation: na, data not available.
a
Severe kyphosis.
b
Hirschprung disease and congenital joint contractures.