Table 5.
Clinical and Genetic Feature Recorded for Individuals with De Novo Mutations in SPTBN2
| DECIPHER ID | 261578 | 282590 | 274803 |
|---|---|---|---|
| NC_000011.9 genomic variant | g.66475202G>A | g.66475202G>A | g.66481869T>G |
| NM_006946.3 cDNA | c.1438C>T | c.1438C>T | c.493A>C |
| NP_008877.1 protein | p.Arg480Trp | p.Arg480Trp | p.Ile165Leu |
| Inheritance | de novo | de novo | de novo |
| Mother’s age | 23 | 33 | 37 |
| Father’s age | 25 | 36 | 38 |
| Birthweight Z score | 0.97 | −1.13 | 0.91 |
| Height Z score | – | −0.78 | −1.23 |
| Weight Z score | – | 0.15 | 1.75 |
| OFC Z score | −1.75 | −1.57 | 0.5 |
| HPO terms | frontal upsweep of hair; global developmental delay; high forehead; hypopigmentation of hair; tremor | abnormal motor neuron morphology; cerebellar atrophy; intellectual disability; mild | ataxia; cerebral atrophy; dysmetria; global developmental delay; hypertonia; motor delay; strabismus; truncal ataxia |
| Notes | no other causative variants identified | no other causative variants identified | no other causative variants identified |