NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter) AND Tooth agenesis, selective, 4

Clinical significance:Pathogenic (Last evaluated: Aug 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000030650.5

Allele description [Variation Report for NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter)]

NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter)

Gene:
WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_025216.2(WNT10A):c.321C>A (p.Cys107Ter)
HGVS:
  • NC_000002.12:g.218882368C>A
  • NG_012179.1:g.6836C>A
  • NM_025216.2:c.321C>A
  • NP_079492.2:p.Cys107Ter
  • NC_000002.11:g.219747090C>A
Protein change:
C107*; CYS107TER
Links:
OMIM: 606268.0002; dbSNP: 121908119
NCBI 1000 Genomes Browser:
rs121908119
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_025216.2:c.321C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Name:
Tooth agenesis, selective, 4 (STHAG4)
Synonyms:
LATERAL INCISORS, ABSENCE OF; LATERAL INCISORS, PEGGED OR MISSING; SUCCEDANEOUS TEETH, AGENESIS OF; See all synonyms [MedGen]
Identifiers:
MedGen: C1835492; Orphanet: 99798; OMIM: 150400
Age of onset:
Childhood
Prevalence:
3.2-7.6%

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053328OMIMno assertion criteria providedPathogenic
(May 1, 2012)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000331436Emory Genetics Laboratory,Emory Universitycriteria provided, single submitter
Pathogenic
(Aug 17, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A.

Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.

PubMed [citation]
PMID:
19559398
PMCID:
PMC2706962

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK.

J Med Genet. 2012 May;49(5):327-31. doi: 10.1136/jmedgenet-2012-100750.

PubMed [citation]
PMID:
22581971
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000053328.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In affected members of 3 families with odontoonychodermal dysplasia (OODD; 257980) and 1 proband of a family with Schopf-Schulz-Passarge syndrome (SPSS; 224750), Bohring et al. (2009) identified homozygosity for a 321C-A transversion in the WNT10A gene, resulting in a cys107-to-ter (C107X) substitution that was not found in 200 control chromosomes. In 2 additional probands with OODD, the C107X mutation was found in compound heterozygosity with a phe228-to-ile (F228I; 606268.0003) mutation, and in a brother and sister who had oligodontia and sparse body hair and eyebrows as their only manifestations, the C107X mutation was found in compound heterozygosity with an arg128-to-gln (R128Q; 606268.0004) mutation. Of 18 heterozygous carriers of the C107X mutation, 10 exhibited some phenotypic manifestation, including anomalies of teeth, skin, and nails.

In 2 unrelated patients with nonsyndromic tooth agenesis (STHAG4; 150400), van den Boogaard et al. (2012) identified heterozygosity for the C107X mutation in the WNT10A gene; in 3 other patients, the mutation was present in compound heterozygosity with the F228I mutation. In addition, van den Boogaard et al. (2012) identified mutations in the C107X mutation in 6 patients with tooth agenesis who had mild features of ectodermal dysplasia, but who did not exhibit the characteristic features of OODD; 2 were heterozygous, 1 was homozygous, and 3 were compound heterozygous for C207X and F228I.

In 4 probands with tooth agenesis and features of ectodermal dysplasia, Plaisancie et al. (2013) identified the C107X mutation in the WNT10A gene, present in homozygosity in 1 patient and in compound heterozygosity in 3 patients, including with the F228I mutation in 1 proband. In the latter family, the proband's unaffected father and mother were each heterozygous for 1 of the mutations.

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

From Emory Genetics Laboratory,Emory University, SCV000331436.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Apr 22, 2017