NM_012186.3(FOXE3):c.457G>C (p.Asp153His) AND Aortic aneurysm, familial thoracic 11, susceptibility to

Clinical significance:risk factor (Last evaluated: Jan 6, 2018)

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:
RCV000417170.2

Allele description [Variation Report for NM_012186.3(FOXE3):c.457G>C (p.Asp153His)]

NM_012186.3(FOXE3):c.457G>C (p.Asp153His)

Genes:
FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
LINC01389:long intergenic non-protein coding RNA 1389 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p33
Genomic location:
Preferred name:
NM_012186.3(FOXE3):c.457G>C (p.Asp153His)
HGVS:
  • NC_000001.11:g.47416772G>C
  • NG_016192.1:g.5701G>C
  • NM_012186.3:c.457G>CMANE SELECT
  • NP_036318.1:p.Asp153His
  • NC_000001.10:g.47882444G>C
  • NM_012186.2:c.457G>C
Protein change:
D153H; ASP153HIS
Links:
OMIM: 601094.0007; dbSNP: rs367943249
NCBI 1000 Genomes Browser:
rs367943249
Molecular consequence:
  • NM_012186.3:c.457G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Aortic aneurysm, familial thoracic 11, susceptibility to (AAT11)
Identifiers:
MONDO: MONDO:0044301; MedGen: C4479235; OMIM: 617349

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494674OMIMno assertion criteria providedrisk factor
(Jan 6, 2018)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, et al.

J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8.

PubMed [citation]
PMID:
26854927
PMCID:
PMC4767350

Details of each submission

From OMIM, SCV000494674.3

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

Description

In a large 4-generation family (family TAA337) segregating autosomal dominant thoracic aortic aneurysm and dissection (AAT11; 617349) with reduced penetrance, Kuang et al. (2016) identified heterozygosity for a c.457G-C transversion (c.457G-C, NM_012186.2) in the FOXE3 gene, resulting in an asp153-to-his (D153H) substitution at a highly conserved residue within the forkhead DNA-binding domain. The mutation, which was found in 1/13,000 chromosomes in the ESP database and with a minor allele frequency of 0.0008 in the ExAC database, was present in 3 affected male members of the family, but was also detected in 2 asymptomatic female members, aged 61 and 23 years; in addition, a female obligate carrier who died at age 87 had no evidence of aortic disease. Coinjection of FOXE3 mRNA harboring the D153H mutation rescued the aortic arch disruption phenotype in significantly fewer foxe3 morphants compared with wildtype mRNA.

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

Last Updated: Sep 29, 2021

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