Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

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dc.authoridFischer, Judith/0000-0002-8580-8118
dc.authoridAlter, Svenja/0000-0003-2233-8734
dc.authoridStolzl, Dora/0000-0001-7321-7305
dc.authoridHotz, Alrun/0000-0003-2560-3951
dc.authorwosidFischer, Judith/E-6327-2016
dc.contributor.authorHotz, Alrun
dc.contributor.authorKopp, Julia
dc.contributor.authorBourrat, Emmanuelle
dc.contributor.authorOji, Vinzenz
dc.contributor.authorSuessmuth, Kira
dc.contributor.authorKomlosi, Katalin
dc.contributor.authorBouadjar, Bakar
dc.date.accessioned2024-08-04T20:53:33Z
dc.date.available2024-08-04T20:53:33Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAutosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. ARCI is caused by biallelic mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, SDR9C7, SULT2B1, and TGM1. The most severe form of ARCI, harlequin ichthyosis, is caused by mutations in ABCA12. Mutations in this gene can also lead to congenital ichthyosiform erythroderma or lamellar ichthyosis. We present a large cohort of 64 patients affected with ARCI carrying biallelic mutations in ABCA12. Our study comprises 34 novel mutations in ABCA12, expanding the mutational spectrum of ABCA12-associated ARCI up to 217 mutations. Within these we found the possible mutational hotspots c.4541G>A, p.(Arg1514His) and c.4139A>G, p.(Asn1380Ser). A correlation of the phenotype with the effect of the genetic mutation on protein function is demonstrated. Loss-of-function mutations on both alleles generally result in harlequin ichthyosis, whereas biallelic missense mutations mainly lead to CIE or LI.en_US
dc.identifier.doi10.3390/genes14030717
dc.identifier.issn2073-4425
dc.identifier.issue3en_US
dc.identifier.pmid36980989en_US
dc.identifier.scopus2-s2.0-85151111627en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.3390/genes14030717
dc.identifier.urihttps://hdl.handle.net/11616/101257
dc.identifier.volume14en_US
dc.identifier.wosWOS:000955722900001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMdpien_US
dc.relation.ispartofGenesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectABCA12en_US
dc.subjectARCIen_US
dc.subjectharlequin ichthyosisen_US
dc.subjectlamellar ichthyosisen_US
dc.subjectcongenital ichthyosiform erythrodermaen_US
dc.titleMutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosisen_US
dc.typeArticleen_US

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