29 May 2024 : Clinical Research
A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye
Mehmet Yiğit Gökmen
1ABCDEF*, Akif Mirioğlu 2E, Buğra Kundakçı2E, İbrahim Boğa3BE, Ömer Sunkar Biçer2ACE
DOI: 10.12659/MSM.944364
Med Sci Monit 2024; 30:e944364
Table 2 The Sillence and the Shapiro classifications with genetic mutation types and subtypes of all cases.
| Case | Age (year) | Sillence classification | Shapiro classification | Mutation type | Mutation subtype |
|---|---|---|---|---|---|
| 1 | 9 | Type IA | Tarda B | COL1A1 | c.769 G>A heterozygous |
| 2 | 7 | Type IA | Tarda B | COL1A1 | c.769 G>A heterozygous |
| 3 | 14 | Type IA | Tarda B | COL1A1 | c.769 G>A heterozygous |
| 4 | 9 | Type IVB | Tarda A | SERPINF1 | c.319_320 insCT Homozygous |
| 5 | 7 | Type IB | Tarda B | COL1A1 | c.2644 C>T heterozygous |
| 6 | 9 | Type IA | Tarda B | COL1A1 | c.3076 C>T heterozygous |
| 7 | 15 | Type IVB | Congenita B | COL1A1 | c.1588 G>A heterozygous |
| 8 | 8 | Type IB | Tarda B | COL1A1 | c.3207+1 G>A heterozygous |
| 9 | 5 | Type IA | Tarda B | COL1A1 | c.769 G>A heterozygous |
| 10 | 11 | Type IA | Tarda B | COL1A1 | c.769 G>A heterozygous |
| 11 | 39 | Type IA | Tarda B | COL1A1 | c. 2089 C>T heterozygous |
| 12 | 17 | Type IB | Tarda B | COL1A1 | c.823 G>T heterozygous |
| 13 | 23 | Type IA | Tarda B | COL1A1 | c.2021_2021 delG heterozygous |
| 14 | 7 | Type IA | Tarda B | COL1A1 | c.2067_2068 delinsA heterozygous |
| 15 | 6 | Type IA | Tarda A | COL1A1 | c.3421 C>T heterozygous |
| 16 | 7 | Type IA | Tarda A | COL1A1 | c.668_669 insC heterozygous |
| 17 | 15 | Type IVB | Congenita B | COL1A1 | c.2461 G>A heterozygous |
| 18 | 9 | Type IA | Tarda B | COL1A1 | c.910 G>A heterozygous |
| 19 | 3 | Type IA | Tarda B | COL1A1 | c.661 G>A heterozygous |
| 20 | 4 | Type IA | Tarda B | COL1A2 | c.910 G>A heterozygous |
| 21 | 5 | Type III | Congenita B | COL1A2 | c.1045 G>T heterozygous |
| 22 | 3 | Type III | Congenita B | COL1A2 | c.865 G>T heterozygous |
| 23 | 7 | Type IVB | Congenita B | Non-COL1A1-COL1A2 | Undetermined |
| 24 | 12 | Type IVB | Congenita B | Non-COL1A1-COL1A2 | Undetermined |
| 25 | 12 | Type IVA | Congenita B | Non-COL1A1-COL1A2 | Undetermined |
| 26 | 6 | Type III | Congenita B | Non-COL1A1-COL1A2 | Undetermined |
| 27 | 14 | Type IA | Tarda A | Non-COL1A1-COL1A2 | Undetermined |