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NM_001264.5(CDSN):c.746del (p.Gly249fs) AND Peeling skin syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2011
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:
RCV000144907.4

Allele description [Variation Report for NM_001264.5(CDSN):c.746del (p.Gly249fs)]

NM_001264.5(CDSN):c.746del (p.Gly249fs)

Genes:
CDSN:corneodesmosin [Gene - OMIM - HGNC]
PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001264.5(CDSN):c.746del (p.Gly249fs)
HGVS:
  • NC_000006.12:g.31116873del
  • NG_012192.1:g.8578del
  • NG_021348.1:g.7043del
  • NM_001264.5:c.746delMANE SELECT
  • NM_014068.3:c.-229+1982delMANE SELECT
  • NP_001255.4:p.Gly249fs
  • NC_000006.11:g.31084650del
  • NM_001264.4:c.746del
Protein change:
G249fs
Links:
OMIM: 602593.0004; dbSNP: rs672601343
NCBI 1000 Genomes Browser:
rs672601343
Molecular consequence:
  • NM_001264.5:c.746del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014068.3:c.-229+1982del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Peeling skin syndrome 1 (PSS1)
Synonyms:
KERATOLYSIS EXFOLIATIVA CONGENITA; SKIN PEELING, FAMILIAL CONTINUOUS GENERALIZED; Peeling skin syndrome, noninflammatory type A (subtype); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024548; MedGen: C1849193; Orphanet: 263543; Orphanet: 263553; OMIM: 270300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000191909OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E.

J Invest Dermatol. 2011 Mar;131(3):779-81. doi: 10.1038/jid.2010.363. Epub 2010 Dec 30. No abstract available.

PubMed [citation]
PMID:
21191406

Details of each submission

From OMIM, SCV000191909.2

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

Description

In a 32-year-old Jewish man with generalized pruritic skin peeling (PSS1; 270300), Israeli et al. (2011) identified homozygosity for a 1-bp deletion (c.746delG) in exon 2 of the CDSN gene, causing a frameshift predicted to result in a premature termination codon (Gly249ValfsTer40). The mutation was not found in 50 population-matched controls; the mutation status of his unaffected first-cousin parents and an affected sister was not reported.

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

Last Updated: Mar 30, 2024