NM_022336.3(EDAR):c.266G>A (p.Arg89His) AND Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032598.5

Allele description [Variation Report for NM_022336.3(EDAR):c.266G>A (p.Arg89His)]

NM_022336.3(EDAR):c.266G>A (p.Arg89His)

Genes:
RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_022336.3(EDAR):c.266G>A (p.Arg89His)
HGVS:
  • NC_000002.12:g.108929288C>T
  • NG_008257.1:g.65085G>A
  • NM_022336.3:c.266G>A
  • NP_071731.1:p.Arg89His
  • NC_000002.11:g.109545744C>T
  • NM_022336.2:c.266G>A
  • Q9UNE0:p.Arg89His
Protein change:
R89H; ARG89HIS
Links:
UniProtKB: Q9UNE0#VAR_013449; OMIM: 604095.0002; dbSNP: rs121908450
NCBI 1000 Genomes Browser:
rs121908450
Molecular consequence:
  • NM_022336.3:c.266G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Identifiers:
MedGen: C3551587

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056349OMIMno assertion criteria providedPathogenic
(Jun 1, 2008)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.

Nat Genet. 1999 Aug;22(4):366-9.

PubMed [citation]
PMID:
10431241

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ.

Eur J Hum Genet. 2008 Jun;16(6):673-9. doi: 10.1038/sj.ejhg.5202012. Epub 2008 Jan 30.

PubMed [citation]
PMID:
18231121

Details of each submission

From OMIM, SCV000056349.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 affected sibs from a nonconsanguineous family with autosomal recessive hypohidrotic ectodermal dysplasia (ECTD10B; 224900), Monreal et al. (1999) detected a G-to-A transition at nucleotide 266 of the EDAR gene resulting in a nonconservative change of arg89 to his in the extracellular domain. The affected children were heterozygous at flanking polymorphic loci, but failed to inherit a paternal allele at the D2S1893 locus. Sequencing revealed their mother to be heterozygous for the variant, whereas their father was hemizygous wildtype. Thus, the affected individuals were compound heterozygotes, with their paternal allele containing a large deletion of indeterminate size (see 604095.0003).

Van der Hout et al. (2008) reported 2 brothers with hypohidrotic ectodermal dysplasia resulting from compound heterozygosity for the R89H and D110A (604095.0009) mutations in the EDAR gene. The unaffected father carried the D110A mutation. However, the mother, who was heterozygous for the R89H mutation, was mildly affected with hypohidrosis and few permanent teeth, consistent with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD10A; 129490). Van der Hout et al. (2008) concluded that some presumably 'recessive' mutations may show phenotypic expression in carriers.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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