NM_001165928.3(DAG1):c.575C>T (p.Thr192Met) AND Limb-girdle muscular dystrophy-dystroglycanopathy, type C9

Clinical significance:Pathogenic (Last evaluated: Mar 10, 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:
RCV000022532.30

Allele description [Variation Report for NM_001165928.3(DAG1):c.575C>T (p.Thr192Met)]

NM_001165928.3(DAG1):c.575C>T (p.Thr192Met)

Gene:
DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_001165928.3(DAG1):c.575C>T (p.Thr192Met)
Other names:
DAG1, THR192MET (rs193922955)
HGVS:
  • NC_000003.12:g.49531086C>T
  • NG_013230.3:g.65955C>T
  • NM_001165928.3:c.575C>T
  • NP_001159400.2:p.Thr192Met
  • NC_000003.11:g.49568519C>T
  • NM_001165928.2:c.575C>T
  • Q14118:p.Thr192Met
  • p.(Thr192Met)
  • r.(575c>u)
Protein change:
T192M; THR192MET
Links:
Leiden Muscular Dystrophy (DAG1): DAG1_00011; UniProtKB: Q14118#VAR_065266; OMIM: 128239.0001; dbSNP: 193922955
NCBI 1000 Genomes Browser:
rs193922955
Molecular consequence:
  • NM_001165928.3:c.575C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 (MDDGC9)
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; Limb-Girdle Muscular Dystrophy Type 9C
Identifiers:
MedGen: C3151184; Orphanet: 280333; OMIM: 613818
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 280333

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043821OMIMno assertion criteria providedPathogenic
(Mar 10, 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

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP.

N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939.

PubMed [citation]
PMID:
21388311
PMCID:
PMC3071687

Details of each submission

From OMIM, SCV000043821.4

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

Description

In a Turkish woman with limb-girdle muscular dystrophy-dystroglycanopathy (MDDGC9; 613818) and cognitive impairment, Hara et al. (2011) identified a homozygous 575C-T transition in the DAG1 gene, resulting in a thr192-to-met (T192M) substitution in a highly conserved residue in the N terminus of the protein. Each unaffected parent was heterozygous for the mutation, which was not found in 200 control chromosomes. Functional expression analysis in vitro and in mice indicated that the mutation decreased LARGE (603590)-mediated posttranslational O-mannosyl glycosylation of DAG1, interfering with its receptor function and laminin binding in skeletal muscle and brain.

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

Last Updated: May 12, 2017