Table 3.
Reported GJA1 mutations and sex distribution in ODDD.
| Sources | Multiple mutations? | GJA1 mutation | Individuals with a molecular confirmed GJA1 pathogenic variant | Untested individuals with both ODDD phenotype and known relative with molecular confirmation | Total individuals with the ODDD phenotype | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Protein | Unspecified | Male | Female | Male | Female | Male | Female | Total | ||||
| Cavusoglu et al. 2019 | No | c.168_169insT | p.Q57SfsTer6 | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Aminabadi et al. 2009 & Aminabadi et al. 2010 | No | N/A | N/A | Missense mutation exon 2 (unspecified) | 1 | 0 | 2 | 1 | 3 | 75% | 1 | 25% | 4 |
| Dwarakanathan et al. 2015 & Furuta et al. 2012 | No | c.75G>T | p.W25C | N/A | 1 | 1 | 0 | 0 | 1 | 50% | 1 | 50% | 2 |
| Quick and Dobersen 2014; National Center for Biotechnology Information 2020 | Yes | c.605G>A | p.R202H | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| c.717G>A | p.R239R | ||||||||||||
| Paznekas et al. 2003 & Paznekas et al. 2009 | No | c.605G>A | p.R202H | N/A | 1 | 7 | 4 | 5 | 5 | 29% | 12 | 71% | 17 |
| Jamsheer et al. 2010 | Yes | c.301C>T | p.R101X | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| c.6delT | p.G2fsX7 | ||||||||||||
| Jamsheer et al. 2010 | No | c.301C>T | p.R101X | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009; Joss et al. 2008; & Richardson et al. 2006 | No | c.97C>T | p.R33X∗ | N/A | 0 | 2 | 0 | 0 | 0 | 0% | 2 | 100% | 2 |
| Paznekas et al. 2009; Richardson et al. 2004; Paznekas et al. 2003; & Gladwin et al. 1997 | No | c.93T>C | p.I31M | N/A | 0 | 0 | 4 | 4 | 4 | 50% | 4 | 50% | 8 |
| Wang et al. 2019 | No | c.91A>T | p.I311P | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009 & van Steensel et al. 2005 | No | c.780_781delTG | p.C260fsX306 | N/A | 1 | 2 | 0 | 0 | 1 | 33% | 2 | 67% | 3 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Gorlin et al. 1963 | No | c.68A>C | p.K23T | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Dwarakanathan et al. 2015; Paznekas et al. 2009; & Vreeburg et al. 2007 | No | c.689_690delAT | p.Y230fsX236 | N/A | 0 | 3 | 1 | 0 | 1 | 25% | 3 | 75% | 4 |
| This study; Gumus 2018; Paznekas et al. 2009; Paznekas et al. 2003; & Traboulsi and Parks 1990 | No | c.65G>A | p.G22E | N/A | 0 | 3 | 0 | 0 | 0 | 0% | 3 | 100% | 3 |
| Wiest et al. 2006 | No | c.659C>A | p.S220Y | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Norton et al. 1995 | No | c.646G>T | p.V216L | N/A | 1 | 0 | 4 | 1 | 5 | 83% | 1 | 17% | 6 |
| Park et al. 2017; Paznekas et al. 2009; & Paznekas et al. 2003 | No | c.61G>A | p.G21R | N/A | 0 | 2 | 0 | 0 | 0 | 0% | 2 | 100% | 2 |
| Brice et al. 2013 | No | c.617A>G | p.K206R | N/A | 1 | 2 | 1 | 1 | 2 | 40% | 3 | 60% | 5 |
| Paznekas et al. 2009 | No | c.602C>T | p.S201F | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009 & de la Parra et al. 2007 | No | c.5G>T | p.G2V | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Vitiello et al. 2005 & Vingolo et al. 1994 | No | c.581A>C | p.H194P∗ | N/A | 3 | 5 | 3 | 3 | 6 | 43% | 8 | 57% | 14 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Judisch et al. 1979 | No | c.52T>C | p.S18P | N/A | 0 | 0 | 1 | 3 | 1 | 25% | 3 | 75% | 4 |
| Paznekas et al. 2009 & Paznekas et al. 2003 | No | c.50A>C | p.Y17S | N/A | 3 | 4 | 0 | 0 | 3 | 43% | 4 | 57% | 7 |
| Paznekas et al. 2009 & Debeer et al. 2005 | No | c.504_506delCTT | p.F169del | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Wiest et al. 2006 & Thomsen et al. 1998 | No | c.461C>A | p.T154N | N/A | 0 | 2 | 0 | 1 | 0 | 0% | 3 | 100% | 3 |
| Paznekas et al. 2009 & van Es et al. 2007 | No | c.460A>G | p.T154A∗ | N/A | 0 | 2 | 0 | 0 | 0 | 0% | 2 | 100% | 2 |
| Paznekas et al. 2009; Richardson et al. 2004; Paznekas et al. 2003; Gladwin et al. 1997; & Schrander-Stumpel et al. 1993 | No | c.443G>A | p.R148Q | N/A | 0 | 0 | 2 | 2 | 2 | 50% | 2 | 50% | 4 |
| Taşdelen et al. 2018 | No | c.442C>T | p.R148Ter | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009; Debeer et al. 2005; & Spaepen et al. 1991 | No | c.440Y>C | p.M147T | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009; Richardson et al. 2004; & Brueton et al. 1990 | No | c.427G>A | p.G143S | N/A | 0 | 0 | 8 | 1 | 8 | 89% | 1 | 11% | 9 |
| Orosz et al. 2018 | No | c.413G>A | p.G138D | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Shapiro et al. 1997 | No | c.412G>C | p.G138R | N/A | 1 | 2 | 2 | 2 | 3 | 43% | 4 | 57% | 7 |
| Kogame et al. 2014 | No | c.412G>A | p.G138S | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009; Richardson et al. 2004; Paznekas et al. 2003; & Gladwin et al. 1997 | No | c.402G>T | p.K134N | N/A | 0 | 0 | 0 | 2 | 0 | 0% | 2 | 100% | 2 |
| Paznekas et al. 2009 & Paznekas et al. 2003 | No | c.400A>G | p.K134E | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Nishat et al. 2012; Paznekas et al. 2009; Paznekas et al. 2003; & Amador et al. 2008 | No | c.389T>C | p.I130T | N/A | 7 | 4 | 5 | 1 | 12 | 71% | 5 | 29% | 17 |
| Paznekas et al. 2009; Musa et al. 2008; Wiest et al. 2006; & Loddenkemper et al. 2002 | No | c.338T>C | p.L113P | N/A | 2 | 2 | 1 | 0 | 3 | 60% | 2 | 40% | 5 |
| Paznekas et al. 2009 & Debeer et al. 2005 | No | c.330G>C | p.E110D | N/A | 2 | 3 | 1 | 2 | 3 | 38% | 5 | 63% | 8 |
| Paznekas et al. 2009 & Kelly et al. 2006 | No | c.32T>C | p.L11P | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Gabriel et al. 2011 & Jamsheer et al. 2009 | No | c.31C>T | p.L11F | N/A | 0 | 2 | 0 | 0 | 0 | 0% | 2 | 100% | 2 |
| Porntaveetus et al. 2017 | No | c.31C>A | p.L11I | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Jamsheer et al. 2014 | No | c.317T>G | p.L106R | N/A | 2 | 0 | 0 | 0 | 2 | 100% | 0 | 0% | 2 |
| Paznekas et al. 2009 & Nivelon-Chevallier et al. 1981 | No | c.317T>C | p.L106P | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009 & Paznekas et al. 2003 | No | c.306G>C | p.K102N | N/A | 1 | 2 | 0 | 0 | 1 | 33% | 2 | 67% | 3 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Wooldridge et al. 1977 | No | c.293A>G | p.Y98C | N/A | 1 | 3 | 1 | 1 | 2 | 33% | 4 | 67% | 6 |
| Paznekas et al. 2009 | No | c.287T>C | p.V96A | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Wiest et al. 2006 | No | c.287T>A | p.V96E | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009 & Kjaer et al. 2004 | No | c.286G>A | p.V96M | N/A | 2 | 2 | 0 | 0 | 2 | 50% | 2 | 50% | 4 |
| Paznekas et al. 2009 & Honkaniemi et al. 2005 | No | c.284A>G | p.H95R | N/A | 0 | 1 | 0 | 1 | 0 | 0% | 2 | 100% | 2 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Opjordsmoen and Nyberg-Hansen 1980 | No | c.268C>G | p.L90V | N/A | 4 | 0 | 3 | 2 | 7 | 78% | 2 | 22% | 9 |
| Jamsheer et al. 2014 | No | c.257C>A | p.S86Y | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Pizzuti et al. 2004 | No | c.227G>A | p.R76H | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Izumi et al. 2013 | No | c.226C>T | p.R76C | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009; Paznekas et al. 2003; & Stanislaw et al. 1998 | No | c.226C>A | p.R76S | N/A | 0 | 2 | 0 | 2 | 0 | 0% | 4 | 100% | 4 |
| Choi et al. 2018 | No | c.221A>C | p.H74P∗ | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Paznekas et al. 2009; Richardson et al. 2004; Paznekas et al. 2003; & Gladwin et al. 1997 | No | c.206C>A | p.S69Y | N/A | 0 | 0 | 2 | 5 | 2 | 29% | 5 | 71% | 7 |
| Paznekas et al. 2009 & Vasconcellos et al. 2005 | No | c.176C>A | p.P59H | N/A | 4 | 4 | 1 | 0 | 5 | 56% | 4 | 44% | 9 |
| Paznekas et al. 2009 | No | c.145_147dupCAG | p.Q49dup | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Pazenkas et al. 2009; Paznekas et al. 2003; Weintraub et al. 1975; & Gellis and Feingold 1974 | No | c.154_156dupTTT | p.F52dup | N/A | 1 | 0 | 1 | 1 | 2 | 67% | 1 | 33% | 3 |
| Hadjichristou et al. 2017 & Paznekas et al. 2009 | No | c.146A>C | p.Q49P | N/A | 1 | 1 | 0 | 0 | 1 | 50% | 1 | 50% | 2 |
| Izumi et al. 2013 | No | c.145C>G | p.Q49E | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Paznekas et al. 2009 & Paznekas et al. 2003 | No | c.145C>A | p.Q49K | N/A | 3 | 2 | 0 | 0 | 3 | 60% | 2 | 40% | 5 |
| Amano et al. 2012; Feller et al. 2008; Paznekas et al. 2009; & Itro et al. 2005 | No | c.142G>A | p.E48K | N/A | 3 | 0 | 0 | 0 | 3 | 100% | 0 | 0% | 3 |
| Jamsheer et al. 2014 | No | c.139G>C | p.D47H | N/A | 0 | 3 | 0 | 0 | 0 | 0% | 3 | 100% | 3 |
| Tumminelli et al. 2016 | No | c.125G>C | p.E42Q | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Gabriel et al. 2011 | No | c.120delGGTTGAGTCAGC | p.V41_A44del | N/A | 0 | 1 | 1 | 2 | 1 | 25% | 3 | 75% | 4 |
| Paznekas et al. 2009 & Kellermayer et al. 2005 | Yes (compound heterozygous with GJB2 mutation) | c.121G>C | p.V41L | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| N/A | p.R127H (GJB2 mutation) | ||||||||||||
| Park et al. 2019; Hayashi et al. 2014; Paznekas et al. 2009; Debeer et al. 2005; & Paznekas et al. 2003 | No | c.119C>T | p.A40V | N/A | 6 | 4 | 4 | 3 | 10 | 59% | 7 | 41% | 17 |
| Wittlieb-Weber et al. 2015 | No | c. 175C>T | p.P59S | N/A | 1 | 2 | 0 | 0 | 1 | 33% | 2 | 67% | 3 |
| Attig et al. 2016 | No | c.396_398delAAA | p.I132_K133delinsM | N/A | 3 | 2 | 0 | 0 | 3 | 60% | 2 | 40% | 5 |
| Paznekas et al. 2009 | No | c.19T>G | p.L7V | N/A | 1 | 0 | 0 | 0 | 1 | 100% | 0 | 0% | 1 |
| Himi et al. 2009 | No | c.13A>T | p.S5C | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| Pace et al. 2019 | No | c.287T>G | p.V96G | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 |
| No | c.77T>C | p.L26P | N/A | 0 | 1 | 0 | 0 | 0 | 0% | 1 | 100% | 1 | |
| Totals | 72 | 93 | 52 | 46 | 124 | 47% | 139 | 53% | 263 | ||||
∗Unknown which specific individuals tested.