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ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in <jats:italic>ABCA12<\/jats:italic> and to update genotype\u2013phenotype correlations for patients with pathogenic <jats:italic>ABCA12<\/jats:italic> variants. Pathogenic variants in <jats:italic>ABCA12<\/jats:italic> were detected using Sanger sequencing or a combination of Sanger sequencing and whole\u2010exome sequencing. To verify the pathogenicity of a previously unreported large deletion and intron variant, cDNA analysis was performed using total RNA extracted from hair roots. Genetic analyses were performed on the patients with CIE, LI, HI and non\u2010congenital ichthyosis with unusual phenotypes (NIUP), and 11 previously unreported <jats:italic>ABCA12<\/jats:italic> variants were identified. Sequencing of cDNA confirmed the aberrant splicing of the variant <jats:italic>ABCA12<\/jats:italic> in the patients with the previously unreported large deletion and intron variant. Our findings expand the phenotype spectrum of ichthyosis patients with <jats:italic>ABCA12<\/jats:italic> pathogenic variants. The present missense variants in <jats:italic>ABCA12<\/jats:italic> are considered to be heterogenous in pathogenicity, and they lead to varying disease severities in patients with ARCI and non\u2010congenital ichthyosis with unusual phenotypes (NIUP).<\/jats:p>","DOI":"10.1111\/exd.15072","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T04:49:13Z","timestamp":1712292553000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Updated mutational spectrum and genotype\u2013phenotype correlations in ichthyosis patients with <i>ABCA12<\/i> pathogenic variants"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7605-1349","authenticated-orcid":false,"given":"Tatsuhiro","family":"Noda","sequence":"first","affiliation":[{"name":"Department of Dermatology Nagoya University Graduate School of Medicine  Nagoya Aichi 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Biomedical Sciences  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumihisa","family":"Imakado","sequence":"additional","affiliation":[{"name":"Department of Dermatology Japanese Red Cross Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Tsuchihashi","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology Juntendo University Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine University of Yamanashi  Yamanashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusuke","family":"Okuno","sequence":"additional","affiliation":[{"name":"Department of Virology Nagoya City University Graduate School of Medical Sciences  Nagoya 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