Table 2.
Comparison of clinical findings in patients with CDK5RAP2 mutations described in the literature
| Bond et al. (2005) Family 1* | Bond et al. (2005) Family 2** | Hassan et al. (2007) | Pagnamenta et al. (2012) | Issa et al. (2013) | Tan et al. (2014) | Lancaster et al. (2013) | |
|---|---|---|---|---|---|---|---|
| Sex (no. of patients) | Female (3), male (1) | Female (2) | Female (2), male (2) | Male (2 patients) | Female (1) | ||
| Mutation 1 | c.246T>A; p.(Tyr82*) | c.4005-15; p.Arg1335Serfs*5 | c.246T>A; p.(Tyr82*) | c.700G>T; p.(Glu234*) | c.4441C > T; p.(Arg1481*) | c.524_528del; p.(Gln175Argfs*42) | c.4546G>T; p.(Glu1516*) |
| Mutation 2 (compound heterozygous) | – | – | – | – | – | c.4005-1G>A | c.4672C>T; p.(Arg1558*) |
| Growth | |||||||
| Head circumference | −6 to −8 SD | P1: −7 SD at 11 years | −4 to −7 SD at 18–30 years | −3.7 SD at birth, −8.9 SD at 6 years | P1: −6.4 SD at 5 years | −8.9 SD at 6 years | −13.2 SD at 3.7 years |
| P2: −5 SD at 4 years | P2: −3.5 SD at birth | ||||||
| Length and height | Normal | Normal | Normal | Normal | Normal | Normal | −6.7 at 3.7 years |
| Facial dysmorphism | |||||||
| Facial asymmetry | − | n.a. | − | − | − | − | − |
| Sloping forehead | + | n.a. | + | + | + | − | − |
| Beaked nose | + | n.a. | + | − | − | − | − |
| Micrognathia | − | n.a. | − | − | − | − | − |
| Midface hypoplasia | n.a. | n.a. | − | − | − | − | − |
| Abnormal palp. fissures | − | n.a. | − | − | − | − | − |
| Strabismus | − | n.a. | − | − | − | − | − |
| Blepharophimosis | − | n.a. | − | − | − | − | − |
| Microphthalmia | − | n.a. | − | − | − | − | − |
| Low-set/malformed ears | − | n.a. | − | + | + | − | − |
| High-arched palate | n.a. | n.a. | − | − | + | − | − |
| Selective tooth agenesis | n.a. | n.a. | − | − | − | − | − |
| Skeletal findings | − | n.a. | − | − | − | − | − |
| Other findings | |||||||
| Intellectual disability | + | + | + | − | + | + | DD |
| Sensorineural hearing loss | + | − | − | + | + | − | − |
| Café au lait spots | − | n.a. | − | − | + | − | − |
| Other anomalies | Seizures, 1 individual developed ALL | Late closing fontanels, low birth weight | − | Severe GER | Simian creases | − | Prominent eyes, wide-spaced teeth, brain malformation |
Accession number CDK5RAP2: NM_018249.5.
SD, standard deviation; n.a., not applicable/unknown; palp., palpebral; ALL, acute lymphoblastic leukemia; GER, gastroesophageal reflux; DD, developmental delay.
*
Clinical details in Moynihan et al. 2000. Am. J. Hum. Genet. 66: 724–727.
**
Clinical details in Pagnamenta et al. (2012).