Table 1 Summary of speech phenotypes in individuals with SETBP1 missense variants outside the degron
Nr | HGVSc (NM_015559.2) | Protein Effect (NP_056374.2) | Speech diagnosis | Minimally verbal (<50 spoken words) | Intelligibility (individual is understood) | Languagea | |||
|---|---|---|---|---|---|---|---|---|---|
Expressive | Receptive | Written | Social | ||||||
1 | c.1332 C > G | p.(Ser444Arg) | Mild Dysarthria | − | Always | Low | Low | Low | Mod. low |
Affected mother of 1 | c.1332 C > G | p.(Ser444Arg) | Mild Dysarthria | − | Usually-always | Mod. low | Mod. low | Mod. low | Average |
3 | c.2561 C > T | p.(Ser854Phe) | Severe CAS | + | Rarely-sometimes | Low | Low | Low | Low |
6 | c.2572 G > A | p.(Glu858Lys) | Severe CAS | + | Rarely-sometimes | Low | Low | Mod. Low | Low |
8 | c.2572 G > A | p.(Glu858Lys) | Severe CAS | + | Sometimes | Low | Low | Low | Low |
14 | c.2621 A > G | p.(Asp874Gly) | Severe CAS | − | Never | Low | Low | Low | Low |
18 | c.3499 C > A | p.(His1167Asn) | Severe CAS | + | Rarely-sometimes | Low | Low | Low | Low |
