NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs) AND Cardiomyopathy dilated with woolly hair and keratoderma

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2000)

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:
RCV000018331.29

Allele description [Variation Report for NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs)]

NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.3(DSP):c.7623delG (p.Lys2542Serfs)
HGVS:
  • NC_000006.12:g.7584885delG
  • NG_008803.1:g.48249delG
  • NM_004415.3:c.7623delG
  • NP_004406.2:p.Lys2542Serfs
  • LRG_423t1:c.7623delG
  • LRG_423:g.48249delG
  • LRG_423p1:p.Lys2542Serfs
  • NC_000006.11:g.7585118delG
  • NM_004415.2:c.7623delG
  • NP_004406.2:p.Lys2542fs
Note:
NCBI staff reviewed the sequence information reported in PubMed 11063735 to determine the location of this allele on current reference sequence.
Links:
OMIM: 125647.0002; dbSNP: 397514039
NCBI 1000 Genomes Browser:
rs397514039
Molecular consequence:
  • NM_004415.3:c.7623delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy dilated with woolly hair and keratoderma (DCWHK)
Synonyms:
Carvajal syndrome
Identifiers:
MedGen: C1854063; Orphanet: 65282; OMIM: 605676
Age of onset:
Childhood
Prevalence:
<1 / 1 000 000 65282

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038610OMIMno assertion criteria providedPathogenic
(Nov 1, 2000)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP.

Hum Mol Genet. 2000 Nov 1;9(18):2761-6.

PubMed [citation]
PMID:
11063735

Breaking the connection: displacement of the desmosomal plaque protein desmoplakin from cell-cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly.

Bornslaeger EA, Corcoran CM, Stappenbeck TS, Green KJ.

J Cell Biol. 1996 Aug;134(4):985-1001.

PubMed [citation]
PMID:
8769422
PMCID:
PMC2120955

Details of each submission

From OMIM, SCV000038610.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Norgett et al. (2000) described the first recessive human mutation in the DSP gene, 7901delG, which causes a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and a dilated left ventricular cardiomyopathy (DCWHK; 605676). The mutation was predicted to cause a premature stop codon to be inserted 18 codons downstream from the deletion and to result in the truncation of the C domain in the tail region of the protein. This region of the desmoplakin protein interacts with intermediate filaments to anchor them to the desmosome (Bornslaeger et al., 1996). All tested affected members of 3 families from Ecuador were homozygous for the mutation. While desmoplakin-null mice die early in development, the human 7901delG mutation is not embryonic lethal. The authors hypothesized that the tail domain of desmoplakin is not required for establishing tissue architecture during development.

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

Last Updated: Jan 6, 2017