Table 2. Genotype-phenotype correlations of 17 probands with CSDE1 LGD variants.
+, present; −, absent; blank, not reported. DN, de novo; MI, maternal inheritance; PI, paternal inheritance; NMI, not maternal inheritance; EEG, electroencephalographic.
| Patient ID | PU2.p1 | BU2.p1 | NN1.p1 | SS1.p1 | SU2.p1 | AA.p1 | TI.p1 | BU1.p1 | CC1.p1 | CC4.p1 | PU1.p1 | CC2.p1 | CC3.p1 | TA.p1 | SU1.p1 | TU.p1 | SS2.p1 | Total |
| Variant inheritance | PI | PI | DN | DN | DN | MI | DN | DN | DN | PI | MI | DN | DN | PI | PI | NMI | MI | 8 DN,8 INH |
| Age at last examination (years) |
4.5 | 3.5 | 12 | 17 | 7 | 19 | 11 | 13 | 8 | 5 | 8.4 | 3 | 3.8 | 7.9 | 5.2 | 5.9 | 10 | 3–19 |
| Sex | F | M | M | F | F | M | M | F | M | M | F | M | M | M | M | M | F | 11 M, 6 F |
| Neurodevelopmental problems | ||||||||||||||||||
| Developmental delay (speech) |
+ | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 17/17 |
| Developmental delay (motor) |
+ | + | − | + | + | + | + | + | + | + | + | + | + | + | + | + | − | 15/17 |
| ASD/autistic features* |
− | + | + | + | − | − | ± | + | + | + | + | + | + | − | + | 11/15 | ||
| ID† | + | + | + | + | ± | + | + | + | + | + | + | ± | + | + | + | + | ± | 14/16 |
| Neurological problems | ||||||||||||||||||
| Epilepsy/seizure‡ | − | − | − | − | − | ± | + | ± | ± | + | + | ± | − | − | − | − | 7/16 | |
| EEG abnormalities | + | − | + | − | + | + | − | − | + | + | − | − | 6/12 | |||||
| MRI brain abnormalities |
+ | + | − | − | + | − | + | + | − | + | − | − | − | + | 7/14 | |||
| Macrocephaly | + | + | − | + | − | + | − | − | − | − | + | − | + | − | − | 6/14 | ||
| Sleep disturbances |
− | − | + | + | − | − | − | − | + | − | − | − | − | + | 4/14 | |||
| Behavior problems | ||||||||||||||||||
| Repetitive behavior |
+ | + | + | + | − | + | + | + | + | + | + | + | + | + | − | + | 14/15 | |
| ADHD | + | − | + | + | − | − | + | + | + | + | + | − | + | 9/13 | ||||
| Anxiety | + | + | − | + | + | − | + | − | + | + | − | − | − | 7/13 | ||||
| Obsessive behavior |
− | + | − | − | − | + | + | − | + | − | − | − | − | 4/13 | ||||
| Self-injurious behavior |
− | − | − | − | − | + | + | − | + | − | − | − | 3/12 | |||||
| Aggressive behavior |
− | − | − | − | − | − | + | + | − | − | − | − | − | − | 2/14 | |||
| Systemic problems | ||||||||||||||||||
| Eye abnormalities§ |
+ | + | + | − | + | + | + | − | + | − | − | − | − | 7/13 | ||||
| Recurrent infections |
− | − | − | + | − | − | − | + | + | + | + | + | − | 6/13 | ||||
| Hypotonia | + | + | − | + | − | − | + | + | − | + | − | − | − | 6/13 | ||||
| Hand deformity║ | + | + | + | + | − | − | − | − | − | − | + | − | − | + | − | 6/15 | ||
| Short stature | + | + | − | − | + | − | − | − | − | − | − | − | − | − | − | − | 3/16 | |
*+, ASD; ±, autistic features.
†+, mild to severe ID; ±, below average or learning disability.
‡+, epilepsy; ±, seizure but no epilepsy diagnosis.
§Eye abnormalities are variable (see table S1).
║Hand deformity including brachydactyly (4), polydactyly (1), and clinodactyly (1).