Table 1.

Features of all EKVP individuals with GJA1 mutations

Patient ID	Origin	Gender	Age	Onset (month)	Affected sites	Mutation type	Nucleotide mutation		Protein alteration	Cx43 location	Cases	References
1	American	M	32 months	5	Dorsal hands, arms, legs, and face	Heterozygous	c.681A > T	p.E227D		—	Sporadic	Lynn M. Boyden
2	Guatemala	F	6 years	6	Dorsal hands, palms and soles, axillae, elbows, and inner thighs, cheeks, and upper chest	Heterozygous	c.681A > T	p.E227D		Cytoplasmic localization	Sporadic	Lynn M. Boyden
3	American	F	30 years	6	Knees, elbows, hands, feet, legs, and arms	Heterozygous	c.131C > T	p.A44V		Cytoplasmic localization	Sporadic	Lynn M. Boyden
4	China	M	12 years	1	Face, neck, elbows, wrists, limbs, knees, inguinal region, hands, and feet	Compound heterozygous	c.848C > T,c.869C > A	p.P283L,p.T290N		Cytomembrane and cytoplasmic localization	Sporadic	This study
5	China	F	7 years	10	Hands, feet, wrists, and ankles	heterozygous	c.869C > A	p.T290N		Cytomembrane and cytoplasmic localization	Sporadic	This study