NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter) AND Becker muscular dystrophy

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1997)

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:
RCV000012031.17

Allele description [Variation Report for NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter)]

NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.2(DMD):c.3631G>T (p.Glu1211Ter)
Other names:
DMD, GLU1211TER, 3839G-T
HGVS:
  • NC_000023.11:g.32448611C>A
  • NG_012232.1:g.895999G>T
  • NM_004006.2:c.3631G>T
  • NP_003997.1:p.Glu1211Ter
  • LRG_199t1:c.3631G>T
  • LRG_199:g.895999G>T
  • LRG_199p1:p.Glu1211Ter
  • NC_000023.10:g.32466728C>A
Protein change:
E1211*; GLU1211TER
Links:
OMIM: 300377.0074; dbSNP: 267606771
NCBI 1000 Genomes Browser:
rs267606771
Molecular consequence:
  • NM_004006.2:c.3631G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Becker muscular dystrophy (BMD)
Identifiers:
MedGen: C0917713; Orphanet: 98895; OMIM: 300376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032265OMIMno assertion criteria providedPathogenic
(Nov 1, 1997)
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

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.

Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.

J Clin Invest. 1997 Nov 1;100(9):2204-10.

PubMed [citation]
PMID:
9410897
PMCID:
PMC508415

Details of each submission

From OMIM, SCV000032265.1

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

Description

Shiga et al. (1997) found a nonsense mutation, glu1211-to-ter (E1211X), due to a G-to-T transversion at the twenty-eighth nucleotide of exon 27 (3839G-T) in the DMD gene of a Japanese patient with Becker muscular dystrophy (300376). Partial skipping of exon 27 resulted in the production of truncated dystrophin mRNA, although the consensus sequences for splicing at both ends of exon 27 were unaltered. To determine how E1211X induced exon 27 skipping, Shiga et al. (1997) examined the splicing enhancer activity of the purine-rich region within exon 27 in an in vitro splicing system using chimeric Drosophila doublesex (dsx) gene pre-mRNA in HeLa cell nuclear extract. The mutant sequence containing 3839G-T abolished splicing enhancer activity of the wildtype purine-rich sequence for the upstream intron in this chimeric pre-mRNA. An artificial polypurine oligonucleotide mimicking the purine-rich sequence of exon 27 also showed enhancer activity that was suppressed by the introduction of a T nucleotide. Furthermore, the splicing enhancer activity was more markedly inhibited when a nonsense codon was created by the inserted T residue. This was the first evidence that partial skipping of an exon harboring a nonsense mutation is due to disruption of a splicing enhancer sequence.

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

Last Updated: May 11, 2018