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000289653 1001_ $$aKomlosi, Katalin$$b0
000289653 245__ $$aAutosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.
000289653 260__ $$aAmsterdam$$bElsevier$$c2024
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000289653 500__ $$aVolume 144, Issue 12, December 2024, Pages 2754-2763.e6
000289653 520__ $$aThe identification of monogenic causes for cornification disorders has enhanced our understanding of epidermal differentiation and skin barrier function. Autosomal dominant lamellar ichthyosis (ADLI) is a rare condition, and ASPRV1 was the only gene linked to ADLI to date. We identified a heterozygous variant (ENST00000686631.1:c.1372G>T, p.(Val458Phe)) in the NKPD1 gene in seven individuals from a four-generation German pedigree with generalized lamellar ichthyosis by whole exome sequencing. Segregation analysis confirmed its presence in affected individuals, resulting in a LOD score of 3.31. NKPD1 encodes the NTPase KAP Family P-Loop Domain-Containing Protein 1, 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-ADLI. While 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 ADLI, impacting ceramide metabolism and skin lipid barrier formation, as demonstrated through functional characterization.
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000289653 650_7 $$2Other$$aMendelian cornification disorders
000289653 650_7 $$2Other$$aNKPD1
000289653 650_7 $$2Other$$aNTPases
000289653 650_7 $$2Other$$aautosomal dominant lamellar ichthyosis
000289653 650_7 $$2Other$$anon-syndromic autosomal dominant congenital ichthyosis
000289653 650_7 $$2Other$$awhole exome sequencing
000289653 7001_ $$aGlocker, Cristina$$b1
000289653 7001_ $$aHsu-Rehder, Hao-Hsiang$$b2
000289653 7001_ $$aAlter, Svenja$$b3
000289653 7001_ $$aKopp, Julia$$b4
000289653 7001_ $$aHotz, Alrun$$b5
000289653 7001_ $$aZimmer, Andreas David$$b6
000289653 7001_ $$aHausser-Siller, Ingrid$$b7
000289653 7001_ $$0P:(DE-He78)a928ded2085c8911822370cad0b4a728$$aSandhoff, Roger$$b8$$udkfz
000289653 7001_ $$aOji, Vinzenz$$b9
000289653 7001_ $$aFischer, Judith$$b10
000289653 773__ $$0PERI:(DE-600)2006902-9$$a10.1016/j.jid.2024.03.041$$gp. S0022202X24003038$$n12$$p2754-2763.e6$$tThe journal of investigative dermatology$$v144$$x0022-202X$$y2024
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