Case | Family | Nucleotide change | Amino acid change | SPS signs |
1 | 1 | c.143dup | p.Pro50Thrfs*24 | na |
2 | 2 | c.781C>T | p.Arg261* | Foot anomalies Knee dysplasia |
3 | 3 | c.231G>A | p.Trp77* | No anomalies |
4 | 4 | c.1119C>G | p.Tyr373* | Foot anomalies Knee dysplasia |
5 | 4 | c.1119C>G | p.Tyr373* | Foot anomalies |
6 | 4 | c.1119C>G | p.Tyr373* | Foot anomalies |
7 | 4 | c.1119C>G (obligate carrier) | p.Tyr373* (obligate carrier) | Foot anomalies |
8 | 5 | c.1021G>C | p.Asp341His | Foot anomalies |
9 | 6 | c.677C>A | p.Ser226Tyr | na |
10 | 7 | c.153_181del | p.Val54Hisfs*10 | Knee dysplasia |
11 | 8 | c.1458dup | p.Pro487Alafs*16 | No anomalies |
12 | 9 | c.(549+1_550-1)_(702+1_703-1)del | – | Foot anomalies Left knee hemarthrosis Lack of ossification of Ischia |
13 | 10 | c.121G>T | p.Gly41* | na |
14 | 11 | Del 17q23.1q23.2(58.1–60.3 Mb) | – | Foot anomalies |
15 | 12 | c.-584G>A | – | Foot anomalies |
16 | 13 | c.1160_1167del | p.Thr387Argfs*29 | Foot anomalies |
17 | 14 | c.1119C>A | p.Tyr373* | Knee dysplasia |
18 | 15 | c.1112dup | p.Pro372Serfs*14 | No anomalies |
19 | 16 | c.1112dup | p.Pro372Serfs*14 | na |
20 | 17 | c.143dup | p.Pro50Thrfs*24 | na |
na: not available.