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NM_001264.5(CDSN):c.424G>T (p.Gly142Ter) AND Peeling skin syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2013
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:
RCV000144909.4

Allele description [Variation Report for NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)]

NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)

Genes:
CDSN:corneodesmosin [Gene - OMIM - HGNC]
PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_001264.5(CDSN):c.424G>T (p.Gly142Ter)
HGVS:
  • NC_000006.12:g.31117191C>A
  • NG_012192.1:g.8256G>T
  • NG_012192.2:g.8255G>T
  • NG_021348.1:g.7361C>A
  • NG_021348.2:g.7393C>A
  • NG_107721.1:g.552C>A
  • NM_001264.5:c.424G>TMANE SELECT
  • NM_014068.3:c.-229+2300C>AMANE SELECT
  • NP_001255.4:p.Gly142Ter
  • NC_000006.11:g.31084968C>A
Protein change:
G142*; GLY142TER
Links:
OMIM: 602593.0006; dbSNP: rs606231275
NCBI 1000 Genomes Browser:
rs606231275
Molecular consequence:
  • NM_014068.3:c.-229+2300C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001264.5:c.424G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000191911OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2013) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Peeling skin syndrome: a clinical, ultrastructural and biochemical study.

Mevorah B, Frenk E, Saurat JH, Siegenthaler G.

Br J Dermatol. 1987 Jan;116(1):117-25.

PubMed [citation]
PMID:
2434123

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

Mallet A, Kypriotou M, George K, Leclerc E, Rivero D, Mazereeuw-Hautier J, Serre G, Huber M, Jonca N, Hohl D.

Br J Dermatol. 2013 Dec;169(6):1322-5. doi: 10.1111/bjd.12593.

PubMed [citation]
PMID:
23957618

Details of each submission

From OMIM, SCV000191911.2

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

Description

In a 50-year-old Caucasian woman with widespread skin peeling and erythema (PSS1; 270300), who was originally described by Mevorah et al. (1987), Mallet et al. (2013) identified homozygosity for a c.424G-T transversion in exon 2 of the CDSN gene, resulting in a gly142-to-ter (G142X) substitution within the N-terminal glycine loop domain. Her 2 healthy children were heterozygous for the mutation. Quantitative RT-PCR analysis revealed that not only was mutant mRNA not degraded in patient skin, it was also 2-fold more abundant than wildtype CDSN mRNA in control skin. Western blot analysis showed that the truncated protein was present in patient skin, but was 22-fold less abundant than full-length corneodesmosin in control skin; full-length protein was not detected in patient skin.

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

Last Updated: Sep 1, 2024