Table 1 Clinical and demographic features of the patients with pycnodysostosis summarized according to mutations
From: Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
Pt ID | City of Origin | Centers | Age (F/M) | Open Ant. Fontanel | Acroosteolysis | Fractures (n)- age (yr)* | Height SDS |
|---|---|---|---|---|---|---|---|
M1I-(3G- > A)- Exon 2 | |||||||
1-I | Ordu | Istanbul | 2.7 (F) | Yes | Yes | Cranium (1)-2.3 | -3.01 |
1-II | 6.5 (F) | No | Yes | Femur (2)-5.4 | -2.36 | ||
L7P- (20 T - > C)-Exon2 | |||||||
2 | Ankara | Ankara | 32 (M) | No | Yes | Femur (2), tibia (1) | -4.3 |
3 | Ankara | Ankara | 10 (M) | Yes | Yes | Tibia (1) | -3.9 |
4 | Çorum | Istanbul | 11 (F) | No | Yes | Tibia (1)-9.7 | -4.8 |
5 | Samsun | Ankara | 19 (M) | Yes | Yes | Tarsal (1)-14 | -3.8 |
D80Y-(238G- > T)-Exon 3 | |||||||
6 | Kastamonu | Istanbul | 10.5 (F) | No | Yes | Yes**-10.5 | -2.31 |
D169N-(505G- > A)-Exon 5 | |||||||
7 | Erzincan | Erzurum | 5 (M) | Yes | Yes | No | -2.2 |
I249T-(746 T- > C)-Exon 6 | |||||||
8 | Sivas | Istanbul | 6 (F) | No | No | No | -2.6 |
9 | Yozgat | Ankara | 12 (M) | Yes | Yes | Tibia (3), clavicle (1), scapula (1)-6 | -3.6 |
R312X-(934C- > T)- Exon 8 | |||||||
10 | Yozgat | Ankara | 14 (M) | Yes | Yes | No | -4.4 |
11 | Corum | Ankara | 8 (F) | Yes | Yes | No | -5.2 |
12 | Erzincan | İstanbul | 9.8 (M) | No | Yes | Tibia (3)-5 | -2.12 |
N296fX54 (IVS7-14-15insAlu: HSU18392)-Intron 7 | |||||||
13-II.1 | Mardin | Istanbul | 6.5 (F) | Yes | Yes | No | -4.64 |
13-II.3 | 1 (F) | Yes | No | No | -1.77 | ||
14 | Batman | Ankara | 16 m (F) | Yes | Yes | No | -2.0 |