Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1
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....
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| Hauptverfasser: | , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
December 2024
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| In: |
The journal of investigative dermatology
Year: 2024, Jahrgang: 144, Heft: 12, Pages: 2754-2763,e1-e6 |
| ISSN: | 1523-1747 |
| DOI: | 10.1016/j.jid.2024.03.041 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jid.2024.03.041 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0022202X24003038 
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| Verfasserangaben: | 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 |
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| 245 | 1 | 0 | |a Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1 |c 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 |
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| 520 | |a 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. | ||
| 650 | 4 | |a Autosomal dominant lamellar ichthyosis | |
| 650 | 4 | |a Mendelian cornification disorders | |
| 650 | 4 | |a Nonsyndromic autosomal dominant congenital ichthyosis | |
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| 650 | 4 | |a Whole-exome sequencing | |
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