Hotz, Alrun ORCID: 0000-0003-2560-3951, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette ORCID: 0000-0002-3004-0180, Tantcheva-Poor, Iliana, Hellstrom Pigg, Maritta, Has, Cristina ORCID: 0000-0001-6066-507X, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Suessmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter ORCID: 0000-0002-3734-753X, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders and Fischer, Judith ORCID: 0000-0002-8580-8118 (2021). Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes, 12 (1). BASEL: MDPI. ISSN 2073-4425

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Abstract

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Hotz, AlrunUNSPECIFIEDorcid.org/0000-0003-2560-3951UNSPECIFIED
Kopp, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bourrat, EmmanuelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oji, VinzenzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Komlosi, KatalinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giehl, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bouadjar, BakarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bygum, AnetteUNSPECIFIEDorcid.org/0000-0002-3004-0180UNSPECIFIED
Tantcheva-Poor, IlianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hellstrom Pigg, MarittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Has, CristinaUNSPECIFIEDorcid.org/0000-0001-6066-507XUNSPECIFIED
Yang, ZhouUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Irvine, Alan D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Betz, Regina C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zambruno, GiovannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tadini, GianlucaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Suessmuth, KiraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gruber, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmuth, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mazereeuw-Hautier, JulietteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jonca, NatalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guez, SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brena, MichelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez-Martin, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Akker, PeterUNSPECIFIEDorcid.org/0000-0002-3734-753XUNSPECIFIED
Bolling, Maria C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hannula-Jouppi, KatariinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zimmer, Andreas D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alter, SvenjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vahlquist, AndersUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fischer, JudithUNSPECIFIEDorcid.org/0000-0002-8580-8118UNSPECIFIED
URN: urn:nbn:de:hbz:38-606376
DOI: 10.3390/genes12010080
Journal or Publication Title: Genes
Volume: 12
Number: 1
Date: 2021
Publisher: MDPI
Place of Publication: BASEL
ISSN: 2073-4425
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60637

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