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| Rare genetic inflammatory skin disorders v4.11 | MVK |
Ida Ertmanska changed review comment from: PMID: 39386107 Zhao et al., 2024 Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT). Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA. PMID: 31753123 Atzmony et al., 2019 Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS. PMID: 31207227 Kubo et al., 2019 DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T. PMID: 26794421 Liu et al., 2016 Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT. PMID: 22983302 Zhang et al., 2012 Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis. MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025). Sources: Literature; to: PMID: 39386107 Zhao et al., 2024 Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT). Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA. PMID: 31753123 Atzmony et al., 2019 Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS. PMID: 31207227 Kubo et al., 2019 DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T. PMID: 26794421 Liu et al., 2016 Report of three mutations in the MVK gene in six sporadic cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT. PMID: 22983302 Zhang et al., 2012 Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis. MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025). Sources: Literature |
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| Rare genetic inflammatory skin disorders v4.10 | MVK |
Ida Ertmanska changed review comment from: PMID: 39386107 Zhao et al., 2024 Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT). Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA. PMID: 26794421 Liu et al., 2016 Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT. PMID: 22983302 Zhang et al., 2012 Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis. MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025). Sources: Literature; to: PMID: 39386107 Zhao et al., 2024 Epidermal second-hit mutation in MVK gene associated with linear porokeratosis. Reported a case of 6-year-old boy diagnosed with linear porokeratosis and a germline heterozygous MVK c.389_394del: p.D130_I131del mutation, along with somatic LOH confined to the lesional epidermis. Father, heterozygous for the germline MVK mutation, was unaffected. The MVK c.389_394del mutation was shown to be mosaic in affected skin lesions (59% mutant vs 41% WT). Method: panel sequencing targeting ∼500 causative genes of genodermatoses on DNA. PMID: 31753123 Atzmony et al., 2019 Authors pose that biallelic mutations are needed to cause mevalonate kinase deficiency (MKD), with mevalonic aciduria and hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) being on the MKD spectrum (HIDS being the milder presentation, and mevalonic aciduria on the severe end). Other genes in the pathway have been implicated in porokeratosis: MVD, PMVK and FDPS. PMID: 31207227 Kubo et al., 2019 DSAP7 - Japanese patient with disseminated superficial actinic porokeratosis - Heterozygote of MVK c.1073A>C (p.Q358P) mutation with two postnatal second-hit epidermis specific mutations in MVK: c.575G>A and c.602C>T. PMID: 26794421 Liu et al., 2016 Report of three mutations in the MVK gene in six sporadic DSAP cases with disseminated superficial actinic porokeratosis (DSAP). Method: direct sequencing of MVK. Variants detected: p.Gly335Asp, p.Pro11Ser, p.Gly376Ser. All three mutations were shown to reduce protein stability compared to WT. PMID: 22983302 Zhang et al., 2012 Family with 3 affected individuals with DSAP, heterozygous for MVK c.764T>C, p.Leu255Pro. Unaffected family members did not carry the mutation. Method: exome seq + linkage analysis. MVK is associated with AD Porokeratosis 3, multiple types, OMIM:175900 (OMIM accessed 31st Dec 2025). Sources: Literature |
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| Rare genetic inflammatory skin disorders v4.9 | PMVK | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: PMVK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.9 | PMVK | Ida Ertmanska Classified gene: PMVK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.9 | PMVK | Ida Ertmanska Added comment: Comment on list classification: There are at least 13 unrelated individuals reported in literature with germline heterozygous variants in PMVK, diagnosed with a type of porokeratosis. Based on the available evidence, PMVK should be promoted to Green for Rare genetic inflammatory skin disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.9 | PMVK | Ida Ertmanska Gene: pmvk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare genetic inflammatory skin disorders v4.8 | PMVK |
Ida Ertmanska gene: PMVK was added gene: PMVK was added to Rare genetic inflammatory skin disorders. Sources: Literature Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 26202976; 27052676; 37315547; 41296516 Phenotypes for gene: PMVK were set to Porokeratosis 1, multiple types, OMIM:175800; porokeratosis, MONDO:0006602 Review for gene: PMVK was set to GREEN Added comment: Porokeratosis is characterised by keratotic lesions with an atrophic center rimmed by an elevated border. Disease onset is mostly in childhood or adolescence. PMID: 26202976 Zhang et al. 2015 Screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 unrelated cases (some cases sporadic some familial). PMVK variants detected: c.1A>G, p.Met1?; c.94A>T, p.Arg32*; c.205A>G, p.Lys69Glu; c.312G>A, p.Trp104*; c.412C>T, p.Arg138*; c.550del, p.Leu184*. PMID: 27052676 Wang et al 2016 Investigated the genetic basis of Disseminated Superficial Porokeratosis (DSP) in 2 five-generation Chinese families with members affected by DSP. Identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families through WES. Age of onset: mostly between 5-10 yo. PMID: 37315547 Zhang et al., 2023 Identified a novel heterozygous missense variant, c.207G>T (p. Lys69Asn) in PMVK in a Chinese pedigree with 4 individuals affected by porokeratosis. Patients presented with keratotic lesions in childhood / adolescence. Only 4 genes were sequenced: MVK, MVD, PMVK, and FDPS. PMID: 41296516 Narula et al., 2025 (online ahead of print) 20-year-old Indian man, presented with persistent non-pruritic skin lesions since childhood: skin-coloured papules on the scrotum and pigmented annular plaques over the forearms, dorsum of the foot, elbows, knees, and buttocks. Heterozygous for NM_006556.4: c.412C>T (p.Arg138*) - same variant as reported in PMID: 27052676. This gene is NOT predicted to be LoF intolerant (pLI = 0.02, LOEUF = 0.87). PMVK is associated with AD Porokeratosis 1, multiple types MIM:175800 in OMIM (accessed 3rd Dec 2025). Sources: Literature |
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