KRT81:c.1204G>A (p.Glu402Lys) AND Beaded hair

Clinical significance:Pathogenic (Last evaluated: Mar 26, 2008)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007931.1

Allele description [Variation Report for KRT81:c.1204G>A (p.Glu402Lys)]

Genes:
KRT81:keratin 81 [Gene - OMIM]
KRT86:keratin 86 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
KRT81:c.1204G>A (p.Glu402Lys)
HGVS:
  • NC_000012.12:g.52287145C>T
  • NG_008184.1:g.9371G>A
  • NM_002281.3:c.1204G>A
  • NP_002272.2:p.Glu402Lys
  • NC_000012.11:g.52680929C>T
Protein change:
E402K; GLU402LYS
Links:
OMIM: 602153.0002; dbSNP: 56821304
NCBI 1000 Genomes Browser:
rs56821304
Molecular consequence:
  • NM_002281.3:c.1204G>A: missense variant [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Beaded hair
Synonyms:
Nodose hair; MONILETHRIX (1 patient); Monilethrix
Identifiers:
MedGen: C0546966; OMIM: 158000; Orphanet: 573
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000028136OMIMPathogenic
(Mar 26, 2008)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J.

J Invest Dermatol. 1998 Jul;111(1):169-72.

PubMed [citation]
PMID:
9665406

Details of each submission

From OMIM, SCV000028136.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a French family segregating monilethrix (158000), Winter et al. (1998) found a lysine substitution of another highly conserved glutamic acid residue, glu402, in the EIATYRRLLEGEE motif of HB1. Family members bearing the glu402-to-lys mutation exhibited a particularly variable disease phenotype. Affected members included 2 infants, 1 with pronounced dystrophic alopecia, follicular keratosis, and clear-cut moniliform hair, and 1 with no hair loss at all and moniliform hair detectable only by electron microscopy. There was also an adult individual without any clinically or electron microscopically detectable signs, but with clear historical proof of the disease. Analysis of 'archival hairs' removed during childhood clearly demonstrated the beaded hair type. Winter et al. (1998) believed that this was the first demonstration of a moniliform hair phenotype in childhood with improvement thereafter, becoming unidentifiable at a later age.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 4, 2014

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