Table 3 Brief description of phenotypes of 20 probands or affected siblings with TANC2 disruptive variants
Patient ID | SS2.p1 | CC1.p1 | HU1.p1 | MA.p1 | NN2.p1 | TI.p1 | SS1.p1 | GU.p1 | TC.p1 | HU2.p1 | AN.p1 | LG.p1 | NN1.p1 | LN.p1 | NN3.p1 | PF.p1 | DU.p1 | CF.p1 | CF.p2 | PI.p1 | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mutation inheritance | PI | DN | DN | DN | MI | PI | DN | MI | DN | DN | DN | DN | DN | DN | UD | DN | DN | PI | PI | DN | 13DN, 6INH |
Age at last examination (years) | 12 | 5 | 23 | 21 | 31 | 15 | 15 | 12 | 12 | 6 | 7 | 14 | 7 | 4 | 40 | 15 | 4 | 22 | 27 | 16 | 6 Adult |
Sex | M | M | F | M | M | M | M | M | M | F | M | M | M | F | F | F | M | F | M | F | 13 M, 7 F |
Neurodevelopmental problems | |||||||||||||||||||||
ASD/autistic features1 | + | + | − | ± | + | − | + | ± | − | ± | ± | ± | + | + | + | − | − | ± | ± | ± | 15/20 |
Intellectual disability2 | − | + | ± | + | + | + | + | + | + | + | + | + | + | + | + | + | ± | + | + | + | 19/20 |
Childhood speech delay | + | + | − | + | + | − | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 18/20 |
Childhood motor delay | − | + | − | + | + | + | + | − | + | + | + | + | − | − | − | + | + | + | + | 13/19 | |
Regression | − | − | − | + | − | − | − | − | − | − | − | + | 2/12 | ||||||||
Neurological problems | |||||||||||||||||||||
Epilepsy/seizure3 | − | − | − | + | + | + | − | + | + | + | − | + | − | − | + | − | + | ± | ± | − | 11/20 |
EEG abnormality | − | + | + | + | + | + | + | + | − | + | − | + | − | − | − | 9/15 | |||||
Sleep disturbances | + | + | − | − | − | + | − | − | + | − | − | − | + | 5/13 | |||||||
Microcephaly | − | − | − | − | + | − | + | − | − | + | − | − | − | − | − | − | − | − | 3/18 | ||
MRI brain abnormality | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | + | 2/16 | ||||
Psychiatric and behavior problems | |||||||||||||||||||||
Repetitive behavior | + | + | − | + | − | + | + | + | − | + | + | + | + | + | − | − | + | − | + | 13/19 | |
Aggressive behavior | − | − | + | + | + | − | − | + | − | + | + | − | − | − | − | − | 6/16 | ||||
ADHD | + | + | + | − | + | − | − | − | − | − | − | − | − | − | 4/14 | ||||||
Psychiatric problems | − | + | − | + | − | − | − | − | − | − | − | + | − | − | − | 3/15 | |||||
Anxiety | + | − | + | − | − | − | − | − | − | + | + | − | 4/12 | ||||||||
Systemic problems | |||||||||||||||||||||
Chronic constipation | + | + | + | + | + | − | − | − | − | + | − | − | + | + | + | 9/15 | |||||
Inferior/spaced teeth | − | − | + | − | + | − | + | − | + | + | + | 6/11 | |||||||||
Strabismus | − | − | + | − | + | − | − | − | − | − | + | + | + | + | 6/14 | ||||||
Ataxia/spastic ataxia | − | − | − | − | + | − | + | − | − | − | + | + | + | 5/13 | |||||||
Hypotonia | − | − | + | + | − | − | − | − | − | + | + | − | + | 5/13 | |||||||
Deformity of spinal column | − | − | + | − | + | − | − | − | − | − | − | + | + | + | 5/14 | ||||||
Foot deformities | − | − | + | + | + | − | + | − | − | − | − | − | + | − | 5/15 | ||||||
Chest deformities | − | − | − | + | + | − | − | − | − | − | − | + | 3/12 | ||||||||
Craniosynostosis | − | − | − | − | − | − | − | − | − | − | − | + | + | + | 3/14 | ||||||
Hypermobile joints | + | + | − | + | − | − | − | − | − | 3/9 | |||||||||||
