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  • Hotz, AlrunUniv Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2021-01-09
  • MDPI,2021
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-435727
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435727URI
  • https://doi.org/10.3390/genes12010080DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

Subject headings and genre

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  • Kopp, JuliaUniv Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)
  • Bourrat, EmmanuelleSt Louis Hosp, AP HP, Reference Ctr Rare Skin Dis MAGEC, Dept Dermatol, F-75010 Paris, France. (author)
  • Oji, VinzenzMunster Univ, Med Ctr, Dept Dermatol & Venereol, D-48149 Munster, Germany. (author)
  • Komlosi, KatalinUniv Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)
  • Giehl, KathrinUniv Munich LMU, Dept Dermatol & Allergy, D-80337 Munich, Germany. (author)
  • Bouadjar, BakarCHU Bab El Oued Algiers, Dept Dermatol, Algiers 16008, Algeria. (author)
  • Bygum, AnetteOdense 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. (author)
  • Tantcheva-Poor, IlianaUniv Cologne, Dept Dermatol, D-50937 Cologne, Germany. (author)
  • Hellström Pigg, MarittaKarolinska Univ Hosp, Dept Clin Genet, S-17176 Stockholm, Sweden. (author)
  • Has, CristinaUniv Freiburg, Med Ctr, Dept Dermatol, D-79104 Freiburg, Germany. (author)
  • Yang, ZhouUniv 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. (author)
  • Irvine, Alan D.Trinity Coll Dublin, Childrens Hlth Ireland, Dermatol, Dublin D12 N512, Ireland.;Trinity Coll Dublin, Clin Med, Dublin D12 N512, Ireland. (author)
  • Betz, Regina C.Univ Bonn, Sch Med, Inst Human Genet, D-53127 Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, D-53127 Bonn, Germany. (author)
  • Zambruno, GiovannaBambino Gesu Pediat Hosp, IRCCS, Genet & Rare Dis Res Div, Genodermatosis Unit, I-00165 Rome, Italy. (author)
  • Tadini, GianlucaFdn IRCCS Ca Granda Osped Maggiore Policlin, UOSD Pediat Alta Intensita Cura, I-20122 Milan, Italy. (author)
  • Süssmuth, KiraMunster Univ, Med Ctr, Dept Dermatol & Venereol, D-48149 Munster, Germany. (author)
  • Gruber, RobertMed Univ Innsbruck, Dept Dermatol Venereol & Allergy, A-6020 Innsbruck, Austria. (author)
  • Schmuth, MatthiasMed Univ Innsbruck, Dept Dermatol Venereol & Allergy, A-6020 Innsbruck, Austria. (author)
  • Mazereeuw-Hautier, JulietteUniv Paul Sabatier, CHU Larrey, Dermatol Dept, Reference Ctr Rare Skin Dis, F-31000 Toulouse, France. (author)
  • Jonca, NatalieUniv Toulouse, Hop Purpan, INSERM, UMR 1056,Dept Epidermis Differentiat & Rheumatoid, Pl Dr Baylac, F-31059 Toulouse, France. (author)
  • Guez, SophieFdn IRCCS Ca Granda Osped Maggiore Policlin, UOSD Pediat Alta Intensita Cura, I-20122 Milan, Italy. (author)
  • Brena, MichelaFdn IRCCS Ca Granda Osped Maggiore Policlin, UOSD Pediat Alta Intensita Cura, I-20122 Milan, Italy. (author)
  • Hernandez-Martin, AngelaHosp Infantil Nino Jesus, Dept Dermatol, Madrid 28009, Spain. (author)
  • van den Akker, PeterUniv Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands. (author)
  • Bolling, Maria C.Univ Groningen, Univ Med Ctr Groningen, Dept Dermatol, Ctr Blistering Dis, NL-9700 RB Groningen, Netherlands. (author)
  • Hannula-Jouppi, KatariinaUniv 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. (author)
  • Zimmer, Andreas D.Univ Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)
  • Alter, SvenjaUniv Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)
  • Vahlquist, AndersUppsala universitet,Dermatologi och venereologi(Swepub:uu)andevahl (author)
  • Fischer, JudithUniv Freiburg, Fac Med, Med Ctr, Inst Human Genet, D-79106 Freiburg, Germany. (author)
  • 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. (creator_code:org_t)

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