EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

Table 4 Allelic variants identified in the EDARADD gene

Family	Gender	NM	Exon/Intron	Protein	Origin	Clinical Diagnosis	HGMD (*)	Second variant
21	M	c.308C > T	Exon 6	p.Ser103Phe	Inherited	HED	[36]	EDA: c.572_589del18
38	F	c.308C > T	Exon 6	p.Ser103Phe	Inherited	HED	[36]
39	M	c.308C > T	Exon 6	p.Ser103Phe	Inherited	NSTA	[36]	WNT10A: c.682 T > A
40	M	c.308C > T	Exon 6	p.Ser103Phe	Inherited	HED	[36]
51	M	c.308C > T	Exon 6	p.Ser103Phe	ND	NSTA	[36]	EDA: c.866G > A

F female, M male, HED, hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database, NSTA non-syndromic tooth agenesis, ND no data

ISSN: 1750-1172