NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys) AND Beaded hair

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2009)

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:
RCV000008050.3

Allele description [Variation Report for NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys)]

NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys)

Gene:
KRT86:keratin 86 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001320198.1(KRT86):c.1204G>A (p.Glu402Lys)
HGVS:
  • NC_000012.12:g.52306237G>A
  • NG_008086.2:g.36593G>A
  • NM_001320198.1:c.1204G>A
  • NP_001307127.1:p.Glu402Lys
  • NC_000012.11:g.52700021G>A
  • NG_008086.1:g.9373G>A
Protein change:
E402K; GLU402LYS
Links:
OMIM: 601928.0003; dbSNP: 60687604
NCBI 1000 Genomes Browser:
rs60687604
Molecular consequence:
  • NM_001320198.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028255OMIMno assertion criteria providedPathogenic
(Jan 1, 2009)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J.

J Invest Dermatol. 1999 Aug;113(2):263-6.

PubMed [citation]
PMID:
10469314

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.

Pearce EG, Smith SK, Lanigan SW, Bowden PE.

J Invest Dermatol. 1999 Dec;113(6):1123-7.

PubMed [citation]
PMID:
10594761
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000028255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In a patient with monilethrix (158000), Winter et al. (1999) identified a glu402-to-lys mutation (E402K) in the HTM of cortex keratin HB6 which was the equivalent of the E402K mutation of HB1 (602153.0002). The mutation was detected in only 1 clinically affected individual of an American family. Thus, the G-to-A transition represented a spontaneous germline mutation in the HB6 gene. This finding indicated that both the HB6/HB1 E413K substitution and the HB6/HB1 E402K substitution represent mutation hotspots in the HTM of the type II cortex keratins.

See also 601928.0005 and Pearce et al. (1999).

In an 18-year-old woman of Turkish descent with monilethrix (158000), van Steensel et al. (2005) identified the E402K mutation.

In 11 affected members of a 3-generation consanguineous Turkish family segregating monilethrix, Celep et al. (2009) identified heterozygosity for the E402K mutation in the KRT86 gene. Noting the low (1.7) lod score obtained in this family at marker D12S390, the authors emphasized the difficulties of mapping a heterozygous disorder in a country with a high rate of consanguinity.

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

Last Updated: Jun 9, 2016