Palmoplantar keratoderma and erythrokeratodermas

Gene: MBTPS2

Red List (low evidence)

MBTPS2 (membrane bound transcription factor peptidase, site 2)
EnsemblGeneIds (GRCh38): ENSG00000012174
EnsemblGeneIds (GRCh37): ENSG00000012174
OMIM: 300294, Gene2Phenotype
MBTPS2 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

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, X-linked; MIM:300918), Haghighi et al. (2013, PMID:22931912) identified a c.1391T-C transition in the MBTPS2 gene (F464S).
Created: 3 Jul 2017, 11:50 a.m.
PMID:24313295 (Wang et al., 2014) studied a Chinese-Han male proband. Non-scarring total alopecia was present since birth and Palmoplantar keratoderma extended to involve the dorsa of the palms and soles. The proband had a hemizygous splice-site variant in MBTPS2 gene (c.671-9T>G), which was heterozygous in his mother (who had milder symptoms), consistent with XLR inheritance.
Created: 3 Jul 2017, 11:50 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma; Olmsted syndrome, X-linked, 300918; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
  • ?Olmsted syndrome, X-linked, 300918
  • X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
OMIM
300294
Clinvar variants
Variants in MBTPS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Jul 2017, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for MBTPS2 were set to IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma; ?Olmsted syndrome, X-linked, 300918; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)

3 Jul 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MBTPS2 was created by rfoulger

3 Jul 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MBTPS2 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Literature