Table 1. Clinical summary of patients with PLK4 or TUBGCP6 mutations.
| Family | Individual | Ancestry | Gene | Mutation(s) | Age (yrs) | OFC (s.d.) | Height (s.d.) | Eye, CNS and other congenital anomalies |
|---|---|---|---|---|---|---|---|---|
| 1 | P1 | Pakistan | PLK4 | Arg936fs | 12 | −7.4 | −4.6 | microcornea, cataract |
| 1 | P2 | Pakistan | PLK4 | Arg936fs | 5 | −14.0 | −6.9 | microphthalmia, cataract, arachnoid cyst |
| 1 | P3 | Pakistan | PLK4 | Arg936fs | 10.5 | −13.5 | −8.3 | polydactyly right foot, talipes |
| 1 | P4 | Pakistan | PLK4 | Arg936fs | 1.5 | −15.1 | −8.1 | microphthalmia |
| 1 | P5 | Pakistan | PLK4 | Arg936fs | 0.7 | −14 | NA | deceased - CHD |
| 2 | P6 | Madagascar | PLK4 | Phe433fs | 20 | −9.0 | −5.6 | retinopathy, deafness |
| 3 | P7 | Iran | PLK4 | Phe433fs | 5 | −12.8 | −5.1 | arachnoid cyst, no eye exam |
| 4 | P8 | Kuwait | TUBGCP6 | His1445fs | 3 | −11.1 | −3.3 | retinopathy, severe hyperopia |
| 5 | P9 | Canada | TUBGCP6 | Arg739Ter, Glu849Gly | 3 | −8.8 | −2.3 | retinopathy, triphalangeal thumbs, CHD |
| 6 | P10 | Europe & | TUBGCP6 | His1055Tyr(ss), Gly1198Ter | 16 | −10.0 | −3.45 | microphthalmia, retinopathy |
| 6 | P11 | S. America | TUBGCP6 | His1055Tyr(ss), Gly1198Ter | 9 | −7.2 | −2.1 | retinopathy, retinal folds, cataract |
Yrs, age in years at examination time of measurements. OFC, occupitofrontal circumference. s.d. standard deviations from the population mean. ss, splice site created by mutation. CHD, congenital heart disease. (P9 OFC at age 9 yr)