NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) AND Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Jun 1, 2011)

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:
RCV000033855.3

Allele description [Variation Report for NM_024334.2(TMEM43):c.271A>G (p.Ile91Val)]

NM_024334.2(TMEM43):c.271A>G (p.Ile91Val)

Gene:
TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.1
Genomic location:
Preferred name:
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val)
Other names:
p.I91V:ATC>GTC
HGVS:
  • NC_000003.12:g.14130930A>G
  • NG_008975.1:g.10991A>G
  • NM_024334.2:c.271A>G
  • NP_077310.1:p.Ile91Val
  • LRG_435t1:c.271A>G
  • LRG_435:g.10991A>G
  • LRG_435p1:p.Ile91Val
  • NC_000003.11:g.14172430A>G
  • Q9BTV4:p.Ile91Val
Protein change:
I91V; ILE91VAL
Links:
UniProtKB: Q9BTV4#VAR_069795; OMIM: 612048.0003; dbSNP: 144811578
GMAF:
0.0002(G), 144811578
NCBI 1000 Genomes Browser:
rs144811578
Allele Frequency:
0.00006(G), GO-ESP
Molecular consequence:
  • NM_024334.2:c.271A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
Identifiers:
MedGen: C3553060; Orphanet: 261; OMIM: 614302

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057760OMIMno assertion criteria providedPathogenic
(Jun 1, 2011)
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

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK.

Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.

PubMed [citation]
PMID:
21391237

Details of each submission

From OMIM, SCV000057760.1

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

Description

In a 68-year-old Japanese woman with Emery-Dreifuss muscular dystrophy-7 (614302), Liang et al. (2011) identified a heterozygous 271A-G transition in the TMEM43 gene, resulting in an ile91-to-val (I91V) substitution in a relatively well-conserved residue in the hydrophilic domain. The mutation was not found in 100 controls. She developed slowly progressive muscle weakness and atrophy of the proximal muscles at age 64, and had a pacemaker implanted due to atrial fibrillation with bradycardia. Muscle biopsy showed necrosis and regeneration. The mutant protein was able to form oligomers. Immunoprecipitation studies showed that the mutant protein could still properly interact with emerin and SUN2, but overexpression in HeLa cells resulted in abnormal nuclear structure and decreased nuclear localization of both emerin and SUN2, with mislocalization of emerin to the endoplasmic reticulum. However, mislocalization of emerin and SUN2 was not observed in patient cells. Overexpression of this mutation in mouse tibialis anterior muscle also caused decreased nuclear localization of emerin.

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

Last Updated: Apr 13, 2018