| アイテムタイプ |
itemtype_ver1(1) |
| 公開日 |
2024-12-16 |
| タイトル |
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タイトル |
Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants |
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言語 |
en |
| 著者 |
Noda, Tatsuhiro
Takeichi, Takuya
Tanahashi, Kana
Ogawa, Yasushi
Takeuchi, So
Yoshikawa, Takenori
Toriyama, Erika
Ashida, Miwa
Imakado, Sumihisa
Tsuchihashi, Hitoshi
Okamoto, Takashi
Okuno, Yusuke
Ogi, Tomoo
Sugiura, Kazumitsu
Kubo, Akiharu
Muro, Yoshinao
Suga, Yasushi
Ishida‐Yamamoto, Akemi
Akiyama, Masashi
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| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利 |
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権利情報 |
"This is the peer reviewed version of the following article: [Noda T, Takeichi T, Tanahashi K, et al. Updated mutational spectrum and genotype–phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants. Exp Dermatol. 2024; 33:e15072. doi:10.1111/exd.15072], which has been published in final form at [https://doi.org/10.1111/exd.15072]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited." |
|
言語 |
en |
| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
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). |
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言語 |
en |
| 出版者 |
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出版者 |
Wiley |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプresource |
http://purl.org/coar/resource_type/c_6501 |
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タイプ |
journal article |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 関連情報 |
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|
関連タイプ |
isVersionOf |
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|
識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1111/exd.15072 |
| 収録物識別子 |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
0906-6705 |
| 書誌情報 |
en : Experimental Dermatology
巻 33,
号 4,
p. e15072,
発行日 2024-04
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| ファイル公開日 |
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日付 |
2025-04-01 |
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日付タイプ |
Available |
Updated_mutational_spectrum_and_genotype-phenotype_correlations.pdf (329 KB)
