Description | Gene | Inheritance | Exon | Mutation | Amino acid change | Disease | Bowed leg/ Wadling gait | Stature range (SD) | Articular pain |
---|---|---|---|---|---|---|---|---|---|
Diaz Escagedo et al. (this report) | MMP13 | AD | 2 | missense | p.Gln72His | MAD 1 | Yes/Yes | -1.7 to -2.6 | No |
Song et al., 2019 | MMP13 | AD | 2 | missense | p.Met71Thr | MAD 1 | ND/Yes | No | No |
Lausch et al., 2009 | MMP13 | AD | 2 | missense | p.Phe74Ser | MAD 1 | Severe/ND | -1.72 to -2.58 | No |
Lausch et al., 2009 | MMP13 | AD | 2 | missense | p.Met91Thr | MAD 1 | Yes/ND | +ā1.6 to -2.89 | No |
Kennedy et al., 2005 | MMP13 | AD | 2 | missense | p.Phe75Ser | MAD 1a | Yes/ND | ND | No |
Li et al., 2015 | MMP13 | AR | 2 | nonsense | p.Arg109Ter | MAD 2 | Yes/Yes | -1.9 to -2.6 | No |
Lausch et al., 2009 | MMP13 | AR | 4 | missense | p.His232Asn | MAD 2 | Yes/Yes | -0.23 to -1 | Yes |
BonafƩ et al., 2014/Tadros et al., 2017 | MMP13 | AR | 5 | missense | p.Trp207Gly | MDST | Yes/ND | -1.31 to -3.85 | Yes |