Table 1 Clinical manifestations identified in individuals harboring potential disease-causing SLITKR2 variants.
P1 | P2 | P3 | P4 | P7 | P8 | P5 | P10 | |
|---|---|---|---|---|---|---|---|---|
SLITRK2 variant | p.E461* | p.E461* | p.T312A | p.R426C | p.L74S (+ARX variant) | p.P374R | p.V511M | p.E210K |
Sex, age | M, 30 yrs | M, 28 yrs | M, 21 yrs | F, 13 yrs | M 12 yrs | M, 11 yrs | M, 12 yrs | M, 8 yrs |
OFC (SDS) | >+2 SDS | >+2 SDS | N.A. | <−2 SDS | +1.5 SDS | NA | N.A. | +0.8 SDS |
Height (SDS) | 0 SDS | 0 SDS | <−5 SDS | −2.5 SDS | +1 SDS | +0.5 SDS | Short stature <−2 DS | +0.5 SDS |
Feeding difficulties | − | − | + GT | +GOR | − | − | + GOR, PEG | +GOR |
Kyphoscoliosis | − | − | + | + | + | − | + | − |
Developmental delay | + | + | Normal before regression | + | + | + | + | + |
Speech | Delay | Delay | Regression | Absent | Delay | Delay | Delay | Language impairment |
ID | Mild | Moderate to severe | Severe | Severe | Moderate to severe | Mild | Moderate to severe | Border line |
Seizure (age at onset) | − | − | + (10 yrs) | + (11 mths) | − | + (8 yrs) | − | − |
Seizures type | − | − | Multifocal, prominent in left central region | Generalized seizures | − | Focal seizures | − | − |
Spasticity/Dystonia | − | − | Spasticity | Diplegic cerebral palsy | − | − | Dystonic diplegia | − |
Unsteady gait | − | − | + a | + c | + | − | + g | − |
Neuropsychiatric manifestations | Anxiety | Major anxiety, ASD, mutism, aggressiveness | − | ASD, anxiety, mutism, aggressiveness | ASD, anxiety, hyperactivity | Anxiety, ADHD, very sensitive, easily frustrated | Anxiety, ADHD | ASD, severe anxiety, ADHD, OCD, vocal tics |
Other | ||||||||
Brain MRI anomalies | Normal | Normal | + b | + d | Not done | + f | + e | Not done |
