Familial disseminated superficial actinic porokeratosisGene: MVD
Comment on mode of inheritance: Monoallelic MOI supported by OMIM.
Created: 7 Sep 2017, 11:01 a.m.
Comment on list classification: Updated rating from Red to Green after clinical discussion with Helen Brittain. Reasonable to include cases where DSAP and DSP haven't been distinguished, as it is sometimes hard to completely differentiate disseminated superficial actinic porokeratosis (DSAP) from disseminated superficial porokeratosis (DSP) in a clinical setting. Sufficient DSAP/DSP cases to support causation.
Created: 7 Sep 2017, 11 a.m.
PMID:28777842 (Li et al 2017) analysed 9 Han Chinese patients with DSAP: 5 patients from 1 family plus 4 sporadic cases. They found a c.746T>C mutation in MVD in the family and 2 sporadic cases, and a c.875A>G mutation in MVD in another sporadic case. The full paper is not available for further analysis and these are the same 2 variants reported by Zhang et al., 2015 (PMID:26202976).
Created: 4 Sep 2017, 2:28 p.m.
Luan et al 2011 identified a linkage locus for DSAP in a 4-generation Chinese DSAP family (PMID:21161278) and hypothesised that the MVD gene was the causal gene in the PK family. Zhang, 2015 (PMID:26202976) subsequently sequenced MVD, and found the c.746T>C variant co-segregated with the PK phenotype in this family. Subsequent analysis of 134 Chinese probands with porokeratosis (the authors do not distinguish between DSAP and DSP) revealed that either the F249S mutation or an N292S mutation was present in heterozygosity in 50 of the PK patients.
Created: 4 Sep 2017, 1:44 p.m.
PMID:27422687 (Li et al., 2016) examined 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population, including 10 families and four sporadic patients with DSAP/disseminated superficial porokeratosis (DSP). 1 novel missense mutation p.Pro15Arg and 4 reported mutations, namely, p.Arg228Gln, p.Phe249Ser, p.Asn292Ser and p.Ile371del were identified in MVD gene in this PK cohort. Note that DSAP is not distinguished from DSP in most cases (except proband of family 1 with DSAP and the p.Arg228Gln mutation in MVD).
Created: 20 Jun 2017, 3:06 p.m.
Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.
Mode of inheritance for MVD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for MVD were set to Porokeratosis 7, multiple types, 614714; actinic/non-actinic disseminated superficial porokeratosis; POROK7; DSAP/DSP
Publications for MVD were set to 26202976; 26816331 (correction for PMID:26202976); 28777842
Phenotypes for MVD were set to Porokeratosis 7, multiple types, 614714; Porokeratosis 7, Disseminated Superficial Actinic Type; POROK7; DSAP/DSP
Publications for MVD were set to 26202976; 26816331 (correction for PMID:26202976)
MVD was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other Model of inheritance for gene MVD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MVD was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen
MVD was created by rfoulger