Table 1 Comparison of clinical features of the case S.Y. and previously cases with the SOX5 variants
From: Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review
Case S.Y. with SOX5 c.1477C > T (p.R493*) | Case 1 with SOX5 c.1477C > T (p.R493*) | Case 2 with SOX5 c.1477C > T (p.R493*) | Previous cases with other SOX5 nonsense variants (n = 13) | Previous cases with other SOX5 variants (n = 72) | |
|---|---|---|---|---|---|
Age of diagnosis (years) | 4.2 | 3 | 20 | 13.7 ± 11.3 | 12.2 ± 11.9 |
Sex | Male | Female | Male | Male (5/12) Female (7/12) | Male (38/71) Female (33/71) |
Language delay | + | + | + | 13/13 | 64/66 |
GDD/ID | + | + | + | 11/12 | 62/66 |
Dysmorphic facial features | + | NA | NA | 2/2 | 54–56/71 |
Nasal anomalies | + | NA | NA | 0/1 | 20–22/71 |
Teeth anomalies | − | NA | NA | 1/1 | 7–9/71 |
Small jaw | − | NA | NA | 1/1 | 6–8/71 |
Blue sclerae | − | NA | NA | 0/1 | 0–2/71 |
Behavioral disturbances | − | − | − | 8/10 | 37/49 |
ASD | − | − | − | 2/13 | 10/69 |
Scoliosis | + | + | + | 3/13 | 10/71 |
Abnormal hands or feet | + | − | − | 2/13 | 17/71 |
Joint hyperlaxity | − | − | − | 0/13 | 4/71 |
Fused vertebrae | − | − | − | 0/13 | 3/71 |
Constipation | + | + | − | 0/2 | 8/71 |
Hypotonia | − | + | − | 8/13 | 36/70 |
Seizures | − | − | + | 2/12 | 17/70 |
Microcephaly | − | − | − | 1/13 | 11/70 |
Gait ataxia | − | − | − | 1/13 | 7/71 |
Tetrapyramidal syndrome | − | − | − | 2/13 | 2/71 |
Strabismus | − | − | − | 7/13 | 29/71 |
Optic atrophy | − | − | − | 5/13 | 8/71 |
Myopia | − | − | − | 2/13 | 6/71 |
Amblyopia | − | − | − | 0/13 | 2/71 |
Cortical visual impairment | − | + | − | 0/13 | 0/71 |