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NM_000226.4(KRT9):c.478C>T (p.Leu160Phe) AND Palmoplantar keratoderma, epidermolytic

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2003
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:
RCV003232984.8

Allele description

NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)

Gene:
KRT9:keratin 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)
HGVS:
  • NC_000017.11:g.41571515G>A
  • NG_008300.2:g.5544C>T
  • NM_000226.4:c.478C>TMANE SELECT
  • NP_000217.2:p.Leu160Phe
  • NC_000017.10:g.39727767G>A
  • NG_008300.1:g.5544C>T
  • NM_000226.3:c.478C>T
  • P35527:p.Leu160Phe
Protein change:
L160F; LEU160PHE
Links:
UniProtKB: P35527#VAR_035438; OMIM: 607606.0012; dbSNP: rs28940896
NCBI 1000 Genomes Browser:
rs28940896
Molecular consequence:
  • NM_000226.4:c.478C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Palmoplantar keratoderma, epidermolytic
Synonyms:
Localized epidermolytic hyperkeratosis; Palmoplantar keratoderma, epidermolytic, with knuckle pads
Identifiers:
MONDO: MONDO:0968949; MedGen: C1721006; OMIM: PS144200; Human Phenotype Ontology: HP:0007559

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023302OMIM
no assertion criteria provided
Pathogenic
(Jul 30, 2003) 		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

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y.

Am J Med Genet A. 2003 Jul 30;120A(3):345-9.

PubMed [citation]
PMID:
12838553

Details of each submission

From OMIM, SCV000023302.2

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

Description

In a family from Shandong Province, China, with autosomal dominant epidermolytic palmoplantar keratoderma associated with knuckle pads (EPPK1; 144200), Lu et al. (2003) identified a heterozygous 544C-T transition in exon 1 of the KRT9 gene, resulting in a leu160-to-phe (L160F) mutation. Both the hyperkeratosis and knuckle pads were friction-related. Lu et al. (2003) stated that aggravation of the hyperkeratosis by friction had not previously been reported. The right hand of each right-handed affected member showed more severe hyperkeratosis than the less frequently used left hand. The knuckle pads on the right hand were likewise more prominent than those on the left hand. Furthermore, the knuckle pad on the more frequently used proximal interphalangeal joint of the index finger was more severely affected than that on the less frequently used interphalangeal joint of the thumb. One patient showed EPPK symptoms approximately 5 months after birth, whereas another showed EPPK symptoms at a little more than 1 year after birth.

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

Last Updated: Jun 2, 2024