Table 1-.
Summary of clinical manifestations and RUNX2 gene mutation sites in five Taiwanese cases with cleidocranial dysplasia.
| Case | Type | Age, years | Sex | Stature, cm (centile) | Clavicular hypoplasia | Dental anomalies | Open fontanelle | Mutation site on RUNX2 | Note |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Sporadic | 4 | M | 91 (< 3rd) | Y | Y | Y | c.1171 C → T, R391X | |
| 2 | Sporadic | 11 | M | 127 (< 5th) | Y | Y | Y | c.1119delC, frameshift | |
| 3 | Sporadic | 2 | F | 78 (< 3rd) | Y | Y | Y | exon 0∼7, 3’UTR deletion | |
| 4 | Familial | 10 | M | 122 (< 5th) | Y | Y | Y | c.568 C → T, R190W | Child |
| 40 | F | 144 (< 5th) | Y | Y | Y | c.568 C → T, R190W | Mother | ||
| 5 | Sporadic | 12 | M | 141 (10∼25 th) | Y | Y | Y | N.D. 4 | |
| 6 | Sporadic | 8 | F | 127 (75 th) | Y | Y | Y | c.674 G → A, R225Q |
Sex: M, male; F, female. Y: present; N: not present. N.D.: not detected.