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NM_015884.3(MBTPS2):c.1391T>C (p.Phe464Ser) AND Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 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:
RCV000114759.2

Allele description

NM_015884.3(MBTPS2):c.1391T>C (p.Phe464Ser)

Gene:
MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_015884.3(MBTPS2):c.1391T>C (p.Phe464Ser)
HGVS:
  • NC_000023.11:g.21882486T>C
  • NG_012797.1:g.47949T>C
  • NM_015884.3:c.1391T>C
  • NP_056968.1:p.Phe464Ser
  • NC_000023.10:g.21900604T>C
  • O43462:p.Phe464Ser
Protein change:
F464S; PHE464SER
Links:
UniProtKB: O43462#VAR_071323; OMIM: 300294.0008; dbSNP: rs587777306
NCBI 1000 Genomes Browser:
rs587777306
Molecular consequence:
  • NM_015884.3:c.1391T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
Synonyms:
OLMSTED SYNDROME, X-LINKED
Identifiers:
MedGen: C3806745; Orphanet: 659; OMIM: 300918

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000148830OMIM
no assertion criteria provided
Pathogenic
(Feb 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

Olmsted syndrome in an Iranian family: report of two new cases.

Yaghoobi R, Omidian M, Sina N, Abtahian SA, Panahi-Bazaz MR.

Arch Iran Med. 2007 Apr;10(2):246-9.

PubMed [citation]
PMID:
17367233

A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP.

J Invest Dermatol. 2013 Feb;133(2):571-3. doi: 10.1038/jid.2012.289. Epub 2012 Aug 30. No abstract available.

PubMed [citation]
PMID:
22931912

Details of each submission

From OMIM, SCV000148830.2

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

Description

In an uncle and nephew from a consanguineous Iranian family with alopecia universalis and severe palmoplantar keratoderma with involvement of periorificial and extensor surfaces and onychodystrophy (Olmsted syndrome, OLMSX; 300918), originally described by Yaghoobi et al. (2007), Haghighi et al. (2013) identified a c.1391T-C transition in exon 11 of the MBTPS2 gene, resulting in a phe464-to-ser (F464S) substitution at a highly conserved residue located 2 codons from the LDG motif. The mutation, which segregated with disease in the family, was not found in the dbSNP, 1000 Genomes Project, NHLBI Exome Sequencing Project, or MBTPS2 gene variant databases.

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

Last Updated: Jul 21, 2018