EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

BMC Medical Genetics

Table 2 HED mutations in the EDAR gene

Inheritance	Genotype	Location	Sequence change*	Protein change	Predicted effect	Reference
AD	heterozygous	exon 12	c.1072C→T	Arg358Ter	truncated protein, no DD	present study, [15]
			c.1129C→T	Leu377Phe	altered DD	[29]
			c.1237A→C	Thr413Pro		[29]
			c.1253T→C	Ile418Thr		° [29]
			1259G→A	Arg420Gln		[15] [29]
AR	homozygous	intron 2	ΔIVS2 -25 to -8	disturbed splicing of exon 3		[15]
		exon 4	c.259T→C	Cys87Arg	altered LBD	[15]
		exon 8	c.718ΔAAAG	frame shift	truncated protein, no trimers formed	[30]
		exon 12	c.1144G→A	Gly382Ser	altered DD	[30]
		exon 12	c.1208C→T	Thr403Met	altered DD	[29]
		exon 12	c.1302G→T	Trp434Cys	altered DD	[29]
	compound heterozygous	intron 2	IVS2 +1G→A	exon 3 skipping	no stable transcript	[31]
		exon 12	c.1124G→A	Arg375His	altered DD
		exon 3	c.140G→A	Cys47Tyr	altered LBD	[29]
		intron 6	IVS6+1G→A	disturbed splicing of exon 6
		exon 4	c.266G→A	Arg89His	altered LBD	[15]
		at least exon 4	Δ ≥ exon 4	?	no protein?
		exon 4	c.266G→T	Arg89His	altered LBD	[29]
		intron 6	IVS6+1G→A	disturbed splicing of exon 6
		exon 4	c.329A→C	Asp110Ala	altered LBD	[29]
		exon 5	c.442T→C	Cys148Arg	altered LBD

HED, hypohidrotic ectodermal dysplasia; EDAR, ectodysplasin 1 anhidrotic receptor; AD, autosomal dominant; AR, autosomal recessive; ° presumed AD; DD, death domain; LBD, ligand binding domain; Δ, deletion; IVS, intervening sequence.
* Sequence positions according to the EDAR cDNA sequence with the initiator adenine as position +1 [26].

ISSN: 1471-2350