NM_004415.4(DSP):c.7248del (p.Phe2416fs) AND Lethal acantholytic epidermolysis bullosa

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000157033.4

Allele description [Variation Report for NM_004415.4(DSP):c.7248del (p.Phe2416fs)]

NM_004415.4(DSP):c.7248del (p.Phe2416fs)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.7248del (p.Phe2416fs)

HGVS:

NC_000006.12:g.7584510del
NG_008803.1:g.47874del
NM_001008844.3:c.5451del
NM_001319034.2:c.5919del
NM_004415.4:c.7248delMANE SELECT
NP_001008844.1:p.Phe1817fs
NP_001305963.1:p.Phe1973fs
NP_004406.2:p.Phe2416fs
LRG_423t1:c.7248del
LRG_423:g.47874del
NC_000006.11:g.7584738del
NC_000006.11:g.7584743del
NM_004415.2:c.7248delT

Protein change:

F1817fs

Links:

OMIM: 125647.0019; dbSNP: rs730880024

NCBI 1000 Genomes Browser:

rs730880024

Molecular consequence:

NM_001008844.3:c.5451del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319034.2:c.5919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004415.4:c.7248del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Lethal acantholytic epidermolysis bullosa (EBLA)
Identifiers:: MONDO: MONDO:0012323; MedGen: C1864826; Orphanet: 158687; OMIM: 609638

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000206761	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000206761

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2010)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ.

J Invest Dermatol. 2010 Nov;130(11):2680-3. doi: 10.1038/jid.2010.189. Epub 2010 Jul 8. No abstract available.

PubMed [citation]

PMID:: 20613772
PMCID:: PMC3061313

Details of each submission

From OMIM, SCV000206761.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an infant girl who died at 26 days of life from lethal acantholytic epidermolysis bullosa (EBLA; 609638), Hobbs et al. (2010) identified homozygosity for a 1-bp deletion (c.7248delT) in exon 24 of the DSP gene, causing a frameshift predicted to result in premature termination (Phe2416LeufsTer14) within the plakin-repeat domain B. The patient's unaffected consanguineous parents were each heterozygous for the deletion. Patient keratinocytes exhibited reduced E-cadherin (192090) and elevated N-cadherin (114020) levels compared to controls, and fibronectin (135600) was elevated in cell lysates. In addition, plakoglobin (173325) and, to a lesser extent, beta-catenin (116806) were observed in nuclei of patient keratinocytes. Hobbs et al. (2010) proposed that elevated N-cadherin and fibronectin might facilitate reepithelialization in patient skin, and that loss of desmoplakin might trigger a 'cadherin switch.'

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine