Table 2 The summary of reported mutations of NOG
No. | Mutation | Phenotypes | Reference |
|---|---|---|---|
1 | p. Leu20fs | Multiple synostoses syndrome | Takahashi et al. (2001) |
2 | p. Pro35Ala | Brachydactyly type B | Lehmann et al. (2007) |
3 | p. Pro35Ser | Teunissen-Cremers syndrome | Hirshoren et al. (2008) |
4 | p. Pro35Ser | Proximal symphalangism | Mangino et al. (2002) |
5 | p. Pro35Ser | Brachydactyly type B | Lehmann et al. (2007) |
6 | p. Pro35Arg | Proximal symphalangism | Gong et al. (1999) |
7 | p. Pro35Arg | Tarsal–carpal coalition syndrome | Dixon et at. (2001) |
8 | p. Ala36Pro | Brachydactyly type B | Lehmann et al. (2007) |
9 | p. Pro37Arg | Tarsal–carpal coalition syndrome | Debeer et al. (2004) |
10 | p. Pro42Ala | Multiple synostoses syndrome | Debeer et al. (2005) |
11 | p. Pro42Ser | Proximal symphalangism | Sha et al. (2019) |
12 | p. Pro42Arg | Multiple synostoses syndrome | Oxley et al. (2008) |
13 | p. Pro42Thr | Multiple synostoses syndrome | Aydin, H et al. (2013) |
14 | p. Val44fs | Teunissen-Cremers syndrome | Weekamp et al. (2005) |
15 | p. Glu48Lys | Brachydactyly type B | Lehmann et al. (2007) |
16 | p. Glu48Lys | Proximal symphalangism | Kosaki et al. (2004) |
17 | p. Pro50Arg | Tarsal–carpal coalition syndrome | Debeer et al. (2005) |
18 | p. Asp55Tyr | Proximal symphalangism | Xiong et al. (2019) |
19 | p. Glu85fs | Stapes ankylosis with broad thumb and toes | Brown et al. (2002) |
20 | p. Arg87fs | Multiple synostoses syndrome | Lee et al. (2014) |
21 | p. Gly91Cys | Fibrodysplasia ossificans progressiva | Kaplan et al. (2008) |
22 | p. Gly92Arg | Fibrodysplasia ossificans progressiva | Kaplan et al. (2008) |
23 | p. Gly92Glu | Fibrodysplasia ossificans progressiva | Kaplan et al. (2008) |
24 | p. Ala95Thr | Fibrodysplasia ossificans progressiva | Kaplan et al. (2008) |
25 | p. Ala102fs | Proximal symphalangism | Thomeer et al. (2011) |
26 | p. Gln110X | Stapes ankylosis with broad thumb and toes | Brown et al. (2002) |
27 | p. Leu129X | Proximal symphalangism | Takahashi et al. (2001) |
28 | p.Gln131X | Stapes ankylosis with broad thumbs and toes | Takashi etal. (2014) |
29 | p. Lys133X | Stapes ankylosis with broad thumb and toes | Takano et al. (2016) |
30 | p. Arg136Cys | Proximal symphalangism | Masuda et al. (2014) |
31 | p. Trp150Cys | Proximal symphalangism | Pan et al. (2015) |
32 | p. Cys155Phe | Stapes ankylosis with symphalangism | Usami et al. (2012) |
33 | p. Cys155Ser | Proximal symphalangism | Usami et al. (2012) |
34 | p. Arg167Gly | Brachydactyly type B | Lehmann et al. (2007) |
35 | p. Arg167Cys | Proximal symphalangism | Liu et al. (2015) |
36 | p. Cys184Tyr | Proximal symphalangism | Takahashi et al. 2001 |
37 | p. Cys184Phe | Proximal symphalangism | Usami et al. 2012 |
38 | p. Pro187Ser | Brachydactyly type B | Lehmann et al. (2007) |
39 | p. Pro187Ala | Proximal symphalangism | Ganaha et al. (2015) |
40 | p. Glu188fs | Teunissen-Cremers syndrome | Weekamp et al. (2005) |
41 | p. Gly189Cys | Proximal symphalangism | Gong et al. (1999) |
42 | p. Met190Val | Multiple synostoses syndrome | Oxley et al. (2008) |
43 | p. Leu203Pro | Teunissen-Cremers syndrome | Weekamp et al. (2005) |
44 | p. Arg204Leu | Tarsal/carpal coalition syndrome | Dixon et al. (2001) |
45 | p. Arg204Gln | Tarsal-carpal coalition syndrome | Das et al. (2018) |
46 | p. Trp205X | Multiple synostoses syndrome | Dawson et al. (2006) |
47 | p. Trp205Cys | Facioaudiosymphalangism syndrome | van den Ende et al. (2005) |
48 | p. Trp205fs | Stapes ankylosis with broad thumb and toes | Emery et al. (2009) |
49 | p. Cys215X | Stapes ankylosis with broad thumb and toes | Usami et al. (2012) |
50 | p. Trp217Gly | Multiple synostoses syndrome | Gong et al. (1999) |
51 | p. Ile220Asn | Proximal symphalangism | Gong et al. (1999) |
52 | p. Ile220fs | Proximal symphalangism | Gong et al. (1999) |
53 | p. Tyr222Asp | Proximal symphalangism | Gong et al. (1999) |
54 | p. Tyr222Cys | Proximal symphalangism | Gong et al. (1999) |
55 | p. Tyr222Cys | Tarsal–carpal coalition syndrome | Dixon et al. (2001) |
56 | p. Pro223Leu | Proximal symphalangism | Gong et al. (1999) |
57 | p. Cys228Gly | Stapes ankylosis with broad thumb and toes | Ishino et al. (2015) |
58 | p. Cys228Ala | Multiple synostoses syndrome | Ganaha et al. (2015) |
59 | p. Cys230Tyr | Multiple synostoses syndrome | Bayat et al. (2016) |
60 | p. Cys230Trp | Proximal symphalangism | Present study |
61 | p. Cys232Trp | Multiple synostoses syndrome | Rudnik-Schöneborn et al. (2010) |