Table 1. NOG mutations reported in the literature.
| Nucleotide change | Type of mutation | Protein | Phenotype | Authors (year) | Reference |
|---|---|---|---|---|---|
| c.58del | Frameshift | p.Leu20fs | Multiple synostoses syndrome | Takahashi et al. (2001) | 18 |
| c.103C>G | Missense | p.Pro35Ala | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.103C>T | Missense | p.Pro35Ser | Teunissen-Cremers syndrome | Hirshoren et al. (2008) | 25 |
| c.103C>T | Missense | p.Pro35Ser | Proximal symphalangism | Mangino et al. (2002) | 26 |
| c.103C>T | Missense | p.Pro35Ser | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.104C>G | Missense | p.Pro35Arg | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.104C>G | Missense | p.Pro35Arg | Tarsal–carpal coalition syndrome | Dixon et at. (2001) | 27 |
| c.106G>C | Missense | p.Ala36Pro | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.110C>G | Missense | p.Pro37Arg | Tarsal–carpal coalition syndrome | Debeer et al. (2004) | 28 |
| c.[124C>G;149C>G] | Missense | p.(Pro42Ala; Pro50Arg) | Multiple synostoses syndrome | Debeer et al. (2005) | 29 |
| c.125C>G | Missense | p.Pro42Arg | Multiple synostoses syndrome | Oxley et al. (2008) | 30 |
| c.129_130dup | Frameshift | p.Val44fs | Teunissen-Cremers syndrome | Weekamp et al. (2005) | 7 |
| c.142G>A | Missense | p.Glu48Lys | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.142G>A | Missense | p.Glu48Lys | Proximal symphalangism Premature ovarian failure | Kosaki et al. (2004) | 31 |
| c.149C>G | Missense | p.Pro50Arg | Tarsal–carpal coalition syndrome | Debeer et al. (2005) | 29 |
| c.304del | Frameshift | p.Ala102fs | Proximal symphalangism | Thomeer et al. (2011) | 19 |
| c.252dup | Frameshift | p.Glu85fs | Stapes ankylosis with broad thumb and toes | Brown et al. (2002) | 14 |
| c.328C>T | Nonsense | p.Gln110X | Stapes ankylosis with broad thumb and toes | Brown et al. (2002) | 14 |
| c.386T>A | Nonsense | p.Leu129X | Proximal symphalangism | Takahashi et al. (2001) | 18 |
| c.397A>T | Nonsense | p.Lys133X | Stapes ankylosis with broad thumb and toes | Present study | |
| c.406C>T | Missense | p.Arg136Cys | Proximal symphalangism | Masuda et al. (2014) | 16 |
| c.450G>C | Missense | p.Trp150Cys | Proximal symphalangism | Pan et al. (2015) | 31 |
| c.463T>A | Missense | p.Cys155Ser | Proximal symphalangism | Usami et al. (2012) | 17 |
| c.499C>G | Missense | p.Arg167Gly | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.499C>T | Missense | p.Arg167Cys | Proximal symphalangism | Liu et al. (2015) | 32 |
| c.551G>A | Missense | p.Cys184Tyr | Proximal symphalangism | Takahashi 2001 | 18 |
| c.551G>T | Missense | p.Cys184Phe | Proximal symphalangism | Usami 2012 | 17 |
| c.559C>T | Missense | p.Pro187Ser | Brachydactyly type B | Lehmann et al. (2007) | 11 |
| c.559C>G | Missense | p.Pro187Ala | Proximal symphalangism | Ganaha et al. (2015) | 22 |
| c.561del | Frameshift | p.Glu188fs | Teunissen-Cremers syndrome | Weekamp et al. (2005) | 7 |
| c.565G>T | Missense | p.Gly189Cys | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.568A>G | Missense | p.Met190Val | Multiple synostoses syndrome | Oxley et al. (2008) | 30 |
| c.608T>C | Missense | p.Leu203Pro | Teunissen-Cremers syndrome | Weekamp et al. (2005) | 7 |
| c.611G>T | Missense | p.Arg204Leu | Tarsal/carpal coalition syndrome | Dixon et al. (2001) | 27 |
| c.614G>A | Nonsense | p.Trp205X | Multiple synostoses syndrome | Dawson et al. (2006) | 33 |
| c.615G>C | Missense | p.Trp205Cys | Facioaudiosymphalangism syndrome | van den Ende et al. (2005) | 34 |
| c.615G>C | Missense | p.Trp205Cys | Stapes ankylosis with broad thumb and toes | Emery et al. (2009) | 35 |
| c.645C>A | Nonsense | p.Cys215X | Stapes ankylosis with broad thumb and toes | Usami et al. (2012) | 17 |
| c.649T>G | Missense | p.Trp217Gly | Multiple synostoses syndrome | Gong et al. (1999) | 8 |
| c.659T>A | Missense | p.Ile220Asn | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.659_660delinsAT | Frameshift | p.Ile220Asn | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.664T>G | Missense | p.Tyr222Asp | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.665A>G | Missense | p.Tyr222Cys | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.665A>G | Missense | p.Tyr222Cys | Tarsal–carpal coalition syndrome | Dixon et al. (2001) | 27 |
| c.668C>T | Missense | p.Pro223Leu | Proximal symphalangism | Gong et al. (1999) | 8 |
| c.682T>G | Missense | p.Cys228Gly | Stapes ankylosis with broad thumb and toes | Ishino et al. (2015) | 36 |
| c.682T>A | Missense | p.Cys228Ala | Multiple synostoses syndrome | Ganaha et al. (2015) | 22 |
| c.696C>G | Missense | p.Cys232Trp | Multiple synostoses syndrome | Rudnik-Schöneborn et al. (2010) | 37 |
| 17q22 long deletion | Multiple synostoses syndrome | Shimizu et al. (2008) | 38 | ||
| 17q22 microdeletion | proximal symphalangism | Pang et al. (2015) | 39 |
Nucleotic numbering is based on GenBank reference sequence NM_005450.4.