دورية أكاديمية
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
| العنوان: | Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients |
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| المؤلفون: | Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süssmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith |
| بيانات النشر: | Uppsala universitet, Dermatologi och venereologi Univ Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. St Louis Hosp, AP HP, Reference Ctr Rare Skin Dis MAGEC, Dept Dermatol, F-75010 Paris, France. Munster Univ, Med Ctr, Dept Dermatol & Venereol, D-48149 Munster, Germany. Univ Munich LMU, Dept Dermatol & Allergy, D-80337 Munich, Germany. CHU Bab El Oued Algiers, Dept Dermatol, Algiers 16008, Algeria. Odense Univ Hosp, Dept Dermatol, DK-5000 Odense, Denmark.;Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark.;Univ Southern Denmark, Clin Inst, DK-5000 Odense, Denmark. Univ Cologne, Dept Dermatol, D-50937 Cologne, Germany. Karolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden. Univ Freiburg, Med Ctr, Dept Dermatol, D-79104 Freiburg, Germany. Univ Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany.;Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Dermatol, Beijing 100045, Peoples R China. Trinity Coll Dublin, Childrens Hlth Ireland, Dermatol, Dublin D12 N512, Ireland.;Trinity Coll Dublin, Clin Med, Dublin D12 N512, Ireland. Univ Bonn, Sch Med, Inst Human Genet, D-53127 Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, D-53127 Bonn, Germany. Bambino Gesu Pediat Hosp, IRCCS, Genet & Rare Dis Res Div, Genodermatosis Unit, I-00165 Rome, Italy. Fdn IRCCS Ca Granda Osped Maggiore Policlin, UOSD Pediat Alta Intensita Cura, I-20122 Milan, Italy. Med Univ Innsbruck, Dept Dermatol Venereol & Allergy, A-6020 Innsbruck, Austria. Univ Paul Sabatier, CHU Larrey, Dermatol Dept, Reference Ctr Rare Skin Dis, F-31000 Toulouse, France. Univ Toulouse, Hop Purpan, INSERM, UMR 1056,Dept Epidermis Differentiat & Rheumatoid, Pl Dr Baylac, F-31059 Toulouse, France. Hosp Infantil Nino Jesus, Dept Dermatol, Madrid 28009, Spain. Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands. Univ Groningen, Univ Med Ctr Groningen, Dept Dermatol, Ctr Blistering Dis, NL-9700 RB Groningen, Netherlands. Univ Helsinki, Dept Dermatol & Allergol, ERN Skin Ctr, Hus Helsinki 00029, Finland.;Helsinki Univ Cent Hosp, Hus Helsinki 00029, Finland.;Folkhalsan Res Ctr, Helsinki, Finland.;Univ Helsinki, Stem Cells & Metab Res Program, Res Programs Unit, Helsinki 00290, Finland. MDPI |
| سنة النشر: | 2021 |
| المجموعة: | Uppsala University: Publications (DiVA) |
| مصطلحات موضوعية: | ALOX12B, ALOXE3, ARCI, ichthyosis, Dermatology and Venereal Diseases, Dermatologi och venereologi |
| الوصف: | The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Genes, 2073-4425, 2021, 12:1; orcid:0000-0002-3004-0180; orcid:0000-0002-1236-7921; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435727Test; PMID 33435499; ISI:000611047400001 |
| DOI: | 10.3390/genes12010080 |
| الإتاحة: | https://doi.org/10.3390/genes12010080Test http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435727Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.20C42D3 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/genes12010080 |
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