Table 1.
Comparison of clinical findings in patients with CDK5RAP2 and digenic mutations described in this study
| SK-1 II.1 | SK-1 II.3 | SK-2 IV.2 | Patient K1600 | |
|---|---|---|---|---|
| Sex (no. of patients) | Male | Female | Female | Male |
| Mutation 1 | CDK5RAP2: c.4005-9A>G; p.Arg1335Serfs*3 | CDK5RAP2: c.4005-9A>G; p.Arg1335Serfs*3 | CDK5RAP2: c.383+1G>C; p.(Lys129*) | CDK5RAP2: c.4187T>C; p.(Met1396Thr) |
| Mutation 2 (digenic mutations) | – | – | – | CEP152: c.3014_3015delAAinsT; p.(Lys1005Ilefs*16) |
| Growth | ||||
| Head circumference | −4 SD at 9 years | −4 SD at 10 years | −6.2 SD at 2.5 years | −12 SD at 7 years |
| Length and height | −3.2 SD at 9 years | −3.4 SD at 10 years | −5 SD at 2.5 years | −8.6 SD at 7 years |
| Facial dysmorphism | ||||
| Facial asymmetry | − | − | − | − |
| Sloping forehead | + | + | + | + |
| Beaked nose | + | + | + | + |
| Micrognathia | + | + | + | + |
| Midface hypoplasia | + | + | + | − |
| Upslanting palp. fissures | − | + | + | − |
| Downslanting palp. fissures | − | − | − | + |
| Strabismus | − | − | + | + |
| Blepharophimosis | − | − | − | + |
| Microphthalmia | − | − | − | + |
| Low-set/malformed ears | − | − | − | + |
| High-arched palate | + | + | + | + |
| Selective tooth agenesis | + | − | − | Delayed secondary dentition |
| Skeletal findings | ||||
| Fifth finger clinodactyly | + | +/− | + | + |
| Brachymesophalangy | − | − | − | + |
| 11 pairs of ribs | + | − | n.a. | n.a. |
| Delayed bone age | + | + | + | + |
| Scoliosis | − | − | − | n.a. |
| Pes planus | − | − | − | n.a. |
| Other findings | ||||
| Intellectual disability | + | + | + | + |
| Sensorineural hearing loss | ||||
| Café au lait spots | + | + | + | − |
| Other anomalies | − | − | − | Ventralized anus |
SD, standard deviation; n.a., not applicable/unknown; palp., palpebral. Accession number CDK5RAP2: NM_018249.5.