NM_000526.5(KRT14):c.92del (p.Ile31fs) AND Epidermolysis bullosa simplex, autosomal recessive

Clinical significance:Pathogenic (Last evaluated: Sep 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:
RCV000015729.27

Allele description [Variation Report for NM_000526.5(KRT14):c.92del (p.Ile31fs)]

NM_000526.5(KRT14):c.92del (p.Ile31fs)

Gene:
KRT14:keratin 14 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000526.5(KRT14):c.92del (p.Ile31fs)
HGVS:
  • NC_000017.11:g.41586743del
  • NG_008624.1:g.5153del
  • NM_000526.5:c.92delMANE SELECT
  • NP_000517.3:p.Ile31fs
  • NC_000017.10:g.39742995del
  • NM_000526.4:c.92delT
  • NM_000526.5:c.92delTMANE SELECT
Protein change:
I31fs
Links:
OMIM: 148066.0014; dbSNP: rs60231560
NCBI 1000 Genomes Browser:
rs60231560
Molecular consequence:
  • NM_000526.5:c.92del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epidermolysis bullosa simplex, autosomal recessive (EBSB1)
Synonyms:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
Identifiers:
MONDO: MONDO:0010976; MedGen: C3715082; Orphanet: 89838; OMIM: 601001

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035994OMIMno assertion criteria providedPathogenic
(Sep 1, 2000)
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 keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.

Br J Dermatol. 2000 Sep;143(3):621-7.

PubMed [citation]
PMID:
10971341

Details of each submission

From OMIM, SCV000035994.3

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

Description

In a child, born of consanguineous Pakistani parents, with a mild form of autosomal recessive epidermolysis bullosa simplex (EBSB1; 601001), Batta et al. (2000) reported a homozygous mutation (92delT) in codon 31 of the KRT14 gene. This mutation causes a frameshift that results in a premature termination codon further downstream in exon 1 and was predicted to encode a protein of 116 amino acids, of which the first 30 are identical to the normal KRT14 sequence and the remaining 86 residues are missense sequence. There was complete absence of KRT14 in the epidermis and the child exhibited only mild to moderate disease. The unaffected mother was heterozygous for the mutation. The K14-negative basal epidermal cells from the patient stained positively for K15 (148030), suggesting that upregulation of expression of K15 may have compensated for the loss of K14.

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

Last Updated: Oct 24, 2021

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