Table 3.
Characteristics of osteogenesis imperfecta patients with biallelic nonsense mutations or frameshift mutations in WNT1 from our study and previous studies
| No. | Nationality | Sex | OI type | Age at first fracture | Amino acid change | Reference |
|---|---|---|---|---|---|---|
| 1 | Hmong | 2 F | III | In utero to 1 mo | p.Ser295* + p.Ser295* | (4) |
| 2 | Chinese | M | III | 7 mo | p.Phe180Argfs + p.Phe180Argfs | (6) |
| 3 | Chinese | F | III | 3 mo | p.Arg156Glyfs + p.Arg156Glyfs | (6) |
| 4 | Hmong | 2 M | III | At birth to 3 h | p.Ser295* + p.Ser295* | (7) |
| 5 | American | M | III | < 1.75 y | p.Cys170Leufs + p.Gln87* | (7) |
| 6 | Newfoundland | F | III | 2-3 wk | p.Gln96Profs + p.Gln96Profs | (7) |
| 7 | Indian | 4 F and 1 M | III | In utero to 6 mo | p.Cys170Leufs + p.Cys170Leufs | (8) |
| 8 | Indian | M | III | 6 mo | p.Leu86Cysfs + p.Leu86Cysfs | (8) |
| 9 | Indian | M | III | 9 d | p.Val229Hisfs + p.Val229Hisfs | (8) |
| 10 | Turkish | 2 M | III | 1 wk-10 d | p.His287Profs + p.His287Profs | (8) |
| 11 | Thai | M | III | UA (< 2 y) | p.His287Profs + p.His287Profs | (9) |
| 12 | Turkish | 1 F and 2 M | III-IV | In utero to 3 mo | p.His287Profs + p.His287Profs | (10) |
| 13 | Turkish | M | III | In utero | p.Glu189* + p.Glu189* | (10) |
| 14 | Thai | 2F | III | 4 mo-14 mo | p.Leu3Serfs + p.Leu3Serfs | (11) |
| 15 | Indian | 3 F and 3 M | III | 11 d-8 mo | p.Cys170Leufs + p.Cys170Leufs | (12) |
| 16 | Saudi | M | III | At birth | p.Cys330* + p.Cys330* | (13) |
| 17 | Chinese | F | III | At birth | p.Cys227*+p.Arg73Thrfs | This study |
| 18 | Chinese | F | III | 9 d | p.Cys170Leufs + p.Cys170Leufs | This study |
| 19 | Chinese | M | III | 2 mo | p.Trp167fs + p.Trp167fs | This study |
| 20 | Chinese | M | III | 6 mo | p.Leu86Alafs + p.Leu86Alafs | This study |
Abbreviations: F, female; M, male; OI, osteogenesis imperfecta; UA, unavailable.
Nearly all OI patients included in this table experienced their first fracture within age 1 year.