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Hereditary palmopla...
Hereditary palmoplantar keratoderma – phenotypes and mutations in 64 patients
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Harjama, L. (författare)
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Karvonen, V. (författare)
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Kettunen, K. (författare)
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Elomaa, O. (författare)
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- Einarsdottir, Elisabet (författare)
- KTH,Genteknologi,Univ Helsinki, Metab Res Program, Helsinki, Finland ; Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden
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Heikkilä, H. (författare)
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Kivirikko, S. (författare)
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Ellonen, P. (författare)
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Saarela, J. (författare)
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Ranki, A. (författare)
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- Kere, J. (författare)
- Karolinska Institutet
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Hannula-Jouppi, K. (författare)
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(creator_code:org_t)
- 2021-05-21
- 2021
- Engelska.
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Ingår i: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959 .- 1468-3083. ; 35:9, s. 1874-1880
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- Background: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found. Objectives: To identify mutations underlying PPK in a cohort of 64 patients. Methods: DNA of 48 patients was analysed on a custom-designed in-house panel for 35 PPK genes, and 16 patients were investigated by a diagnostic genetic laboratory either by whole-exome sequencing, gene panels or targeted single-gene sequencing. Results: Of the 64 PPK patients, 32 had diffuse (50%), 19 focal (30%) and 13 punctate (20%) PPK. None had striate PPK. Pathogenic mutations in altogether five genes were identified in 31 of 64 (48%) patients, the majority (22/31) with diffuse PPK. Of them, 11 had a mutation in AQP5, five in SERPINB7, four in KRT9 and two in SLURP1. AAGAB mutations were found in nine punctate PPK patients. New mutations were identified in KRT9 and AAGAB. No pathogenic mutations were detected in focal PPK. Variants of uncertain significance (VUS) in PPK-associated and other genes were observed in 21 patients that might explain their PPK. No suggestive pathogenic variants were found for 12 patients. Conclusions: Diffuse PPK was the most common (50%) and striate PPK was not observed. We identified pathogenic mutations in 48% of our PPK patients, mainly in five genes: AQP5, AAGAB, KRT9, SERPINB7 and SLURP1.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- aquaporin 5
- cytokeratin 9
- AAGAB protein
- human
- Ly antigen
- serine proteinase inhibitor
- SERPINB7 protein
- human
- SLURP1 protein
- human
- urokinase
- vesicular transport adaptor protein
- AAGAB gene
- adolescent
- adult
- AQP5 gene
- Article
- child
- diffuse palmoplantar keratoderma
- disease classification
- female
- focal palmoplantar keratoderma
- gene
- gene mutation
- genetic disorder
- hereditary palmoplantar keratoderma
- human
- KRT9 gene
- major clinical study
- male
- palmoplantar keratoderma
- phenotype
- punctate palmoplantar keratoderma
- SERPINB7 gene
- SLURP1 gene
- whole exome sequencing
- genetics
- mutation
- pedigree
- Adaptor Proteins
- Vesicular Transport
- Antigens
- Ly
- Humans
- Keratoderma
- Palmoplantar
- Keratoderma
- Palmoplantar
- Diffuse
- Serpins
- Urokinase-Type Plasminogen Activator
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Harjama, L.
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Karvonen, V.
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Kettunen, K.
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Elomaa, O.
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Einarsdottir, El ...
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Heikkilä, H.
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visa fler...
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Kivirikko, S.
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Ellonen, P.
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Saarela, J.
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Ranki, A.
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Kere, J.
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Hannula-Jouppi, ...
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visa färre...
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- Av lärosätet
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Kungliga Tekniska Högskolan
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Karolinska Institutet