Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

Autor: Noda T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.; Nagoya University Institute for Advanced Research, Nagoya, Japan., Tanahashi K; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Ogawa Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Takeuchi S; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Yoshikawa T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Toriyama E; Department of Dermatology, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan., Ashida M; Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Imakado S; Department of Dermatology, Japanese Red Cross Medical Center, Tokyo, Japan., Tsuchihashi H; Department of Dermatology, Juntendo University Urayasu Hospital, Urayasu, Japan., Okamoto T; Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan., Okuno Y; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Ogi T; Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan.; Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Sugiura K; Department of Dermatology, Fujita Health University School of Medicine, Toyoake, Japan., Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan., Muro Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan., Suga Y; Department of Dermatology, Juntendo University Urayasu Hospital, Urayasu, Japan., Ishida-Yamamoto A; Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan., Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Jazyk: angličtina
Zdroj: Experimental dermatology [Exp Dermatol] 2024 Apr; Vol. 33 (4), pp. e15072.
DOI: 10.1111/exd.15072
Abstrakt: Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. 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 ABCA12 and to update genotype-phenotype correlations for patients with pathogenic ABCA12 variants. Pathogenic variants in ABCA12 were detected using Sanger sequencing or a combination of Sanger sequencing and whole-exome 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-congenital ichthyosis with unusual phenotypes (NIUP), and 11 previously unreported ABCA12 variants were identified. Sequencing of cDNA confirmed the aberrant splicing of the variant ABCA12 in the patients with the previously unreported large deletion and intron variant. Our findings expand the phenotype spectrum of ichthyosis patients with ABCA12 pathogenic variants. The present missense variants in ABCA12 are considered to be heterogenous in pathogenicity, and they lead to varying disease severities in patients with ARCI and non-congenital ichthyosis with unusual phenotypes (NIUP).
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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