Table 1.
PP2A-B56 mutations and associated phenotypes
| Case ID | Gene | Mutation |
Inheritance | Age/years | Ht/ | HC/ | Intellectual disability | Other clinical features | |
|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | s.d. | s.d. | ||||||
| COG1744 | PPP2R5D | c.592G>A | p.Glu198Lys | de novo | 0.3 | 2.3 | 3.6 | Yes | Hypospadias |
| COG1674 | PPP2R5D | c.598G>A | p.Glu200Lys | de novo | 1.7 | −1.4 | 3.8 | Yes | |
| COG0328 | PPP2R5D | c.598G>A | p.Glu200Lys | unknown | 14 | 2 | 3.8 | Yes | Parkinsonism |
| COG0681 | PPP2R5C | c.468_470delAAC | p.Thr157del | de novo | 9.3 | 1.6 | 3.3 | Yes | Facial asymmetry, conductive hearing loss |
| COG0955 | PPP2R5B | c.482C>T | p.Ser161Leu | de novo | 17.5 | 3 | 0.3 | Yes | Swelling of PIPJ |
Mutation positions in PPP2R5B, PPP2R5C and PPP2R5D correspond to RefSeq sequences NM_006244, NM_001161725 and NM_006245, respectively.
Ht/s.d., height/standard deviation; HC/s.d., head circumference/standard deviation; PIPJ, proximal interphalangeal joint.