| |  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)
