| Online-Ressource |
Verfasst von: | Komlosi, Katalin [VerfasserIn]  |
| Glocker, Cristina [VerfasserIn]  |
| Hsu-Rehder, Hao-Hsiang [VerfasserIn]  |
| Alter, Svenja [VerfasserIn]  |
| Kopp, Julia [VerfasserIn]  |
| Hotz, Alrun [VerfasserIn]  |
| Zimmer, Andreas David [VerfasserIn]  |
| Haußer-Siller, Ingrid [VerfasserIn]  |
| Sandhoff, Roger [VerfasserIn]  |
| Oji, Vinzenz [VerfasserIn]  |
| Fischer, Judith [VerfasserIn]  |
Titel: | Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1 |
Verf.angabe: | Katalin Komlosi, Cristina Glocker, Hao-Hsiang Hsu-Rehder, Svenja Alter, Julia Kopp, Alrun Hotz, Andreas David Zimmer, Ingrid Hausser, Roger Sandhoff, Vinzenz Oji and Judith Fischer |
E-Jahr: | 2024 |
Jahr: | December 2024 |
Umfang: | 16 S. |
Illustrationen: | Illustrationen |
Fussnoten: | Online verfügbar 18 April 2024, Version des Artikels 20 November 2024 ; Gesehen am 02.07.2025 |
Titel Quelle: | Enthalten in: The journal of investigative dermatology |
Ort Quelle: | Amsterdam : Elsevier, 1938 |
Jahr Quelle: | 2024 |
Band/Heft Quelle: | 144(2024), 12 vom: Dez., Seite 2754-2763,e1-e6 |
ISSN Quelle: | 1523-1747 |
Abstract: | The identification of monogenic causes for cornification disorders has enhanced our understanding of epidermal differentiation and skin barrier function. Autosomal dominant lamellar ichthyosis is a rare condition, and ASPRV1 was the only gene linked to autosomal dominant lamellar ichthyosis to date. We identified a heterozygous variant (ENST00000686631.1:c.1372G>T, p.[Val458Phe]) in the NKPD1 gene in 7 individuals from a 4-generation German pedigree with generalized lamellar ichthyosis by whole-exome sequencing. Segregation analysis confirmed its presence in affected individuals, resulting in a logarithm of the odds score of 3.31. NKPD1 encodes the NKPD1 protein, implicated in the plasma membrane; its role in human disease is as yet unknown. Skin histology showed moderate acanthosis and compact orthohyperkeratosis, and the ultrastructure differed clearly from that in ASPRV1-autosomal dominant lamellar ichthyosis. Although NKPD1 mRNA expression increased during keratinocyte differentiation, stratum corneum ceramides exhibited no significant changes. However, affected individuals showed an elevated ratio of protein-bound ceramides to omega-esterified ceramides. This highlights NKPD1's role in autosomal dominant lamellar ichthyosis, impacting ceramide metabolism and skin lipid barrier formation, as demonstrated through functional characterization. |
DOI: | doi:10.1016/j.jid.2024.03.041 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1016/j.jid.2024.03.041 |
| Volltext: https://www.sciencedirect.com/science/article/pii/S0022202X24003038 |
| DOI: https://doi.org/10.1016/j.jid.2024.03.041 |
Datenträger: | Online-Ressource |
Sprache: | eng |
Sach-SW: | Autosomal dominant lamellar ichthyosis |
| Mendelian cornification disorders |
| Nonsyndromic autosomal dominant congenital ichthyosis |
| NTPases |
| Whole-exome sequencing |
K10plus-PPN: | 1929528000 |
Verknüpfungen: | → Zeitschrift |
Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1 / Komlosi, Katalin [VerfasserIn]; December 2024 (Online-Ressource)