Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases

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.