Table 1.
CEP57 mutations and associated clinical features
| Case ID | 663_1 | 663_2 | 638 | 657 | |
|---|---|---|---|---|---|
| Mutations | c.520_521delGA c.915_925dup11 |
c.520_521delGA c.915_925dup11 |
c.241C>T; p.R81X c.241C>T; p.R81X |
c.915_925dup11 c.915_925dup11 |
|
| Age | 8.5yrs | 4.5yrs | died 3wks | died 15yrs | |
| Clinical Features | Mosaic aneuploidies | yes | yes | yes | yes |
| Growth retardation | yes | yes | yes | yes | |
| Microcephaly | no | yes | no | yes | |
| IUGR | no | yes | yes | no | |
| Mental retardation | no | no | n/a | mild | |
| Congenital heart disease |
no | no | yes | mild | |
| Hypothyroidism | yes | no | n/a | yes | |
| Rhizomelic shortening | no | no | yes | yes | |
| Other features | none | none | duodenal atresia hypotonia |
hearing impairment sleep apnea |
|
| Reference | 3 | 3 | 4 | 7 |
a
More detailed clinical information is given in the Supplementary Material