Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

Sugiura, Kazumitsu; Akiyama, Masashi

doi:10.1016/j.jdermsci.2015.04.009

Cited by 29 publications

(22 citation statements)

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“…This protein, with nine predicted transmembrane domains, is thought to be a Mg 2+ transporter and plays a role in lipid metabolism during the epidermal development, but specific understanding of its function remains unknown [2, 4, 9]. To date, ten unique variants in NIPAL4 have been associated with various forms of ichthyosis in human patients, consisting of seven missense variants in exons 4, 5, and 6 [9–11], one nonsense variant in exon 2 [9], and two consensus splice site variants affecting splicing of introns 2 and 5 [10].…”

Section: Discussionmentioning

confidence: 99%

“…This disorder usually presents at an early age and continues to affect the patients throughout their lifetime. Currently, there are seventeen genes associated with ARCI: TGM1 , ABCA12 , ALOXE3 , ALOX12B , ALOX15B , NIPAL2 , NIPAL4 , CYP4F22 , PNPLA1 , LIPN , NIPA1 , NIPA2 , CERS3 , SLC27A4 , SPINKS , LI5 and KRT10 [2–4]. While the genetic causes have not yet been determined in all cases of human ARCI, a recent study demonstrated that NIPAL4 disease-causing variants are equally prevalent with ALOX12B variants, followed by TGM1 for most causative variants in Scandinavian patients [5].…”

Section: Introductionmentioning

confidence: 99%

“…While the genetic causes have not yet been determined in all cases of human ARCI, a recent study demonstrated that NIPAL4 disease-causing variants are equally prevalent with ALOX12B variants, followed by TGM1 for most causative variants in Scandinavian patients [5]. The exact function of NIPAL4 is currently unknown but it functions as a magnesium transporter for fatty acid transport protein 4 (FATP4) and is associated with transglutaminase-1 and FATP4 in processing lipids to maintain epidermal barrier function [4]. …”

Section: Introductionmentioning

confidence: 99%

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A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

et al. 2017

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Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin) protein of 248 amino acids instead of the wild-type length of 404. Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. More importantly, the development of this canine model of autosomal recessive congenital ichthyosis will provide insight into the development of new treatments across species.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

et al. 2017

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“…Bisher wurden Veränderungen in neun verschiedenen Genen (▶ Tab. 1) als Ursache von ARCI beschrieben [10]. Am häufigsten sind das Transglutaminase-1-Gen TGM1 und die Lipoxygenase-Gene ALOX12B und ALOXE3 betroffen [11].…”

Section: Autosomal-rezessiv Vererbte Angeborene Ichthyosenunclassified

Angeborene Ichthyosen: Warum Lipide in der obersten Hautschicht lebenswichtig sind

Schneider¹,

Dick²,

Schatz³

2019

Kinder- und Jugendmedizin

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ZusammenfassungIchthyosen sind Verhornungsstörungen, denen eine verminderte Permeabilitätsbarriere der Haut zugrunde liegt. Erhöhter Wasserverlust über die Epidermis bewirkt dabei eine kompensatorische Hyperproliferation mit übermäßiger Schuppenbildung. Mutationen verschiedener Gene wurden als Krankheitsursache beschrieben. Unterschieden wird zunächst zwischen Ichthyosen im Rahmen bestimmter Syndrome und nicht-syndromalen Ichthyosen, die allein die Haut betreffen, sowie zwischen perinatal noch nicht sichtbaren Ichthyosen und solchen, die mit angeborener Symptomatik – insbesondere mit dem Bild des Kollodiumbabys – einhergehen (Ichthyosis congenita). Obwohl später Blickdiagnosen die Regel sind, stellt im Falle eines Kollodiumbabys die Abgrenzung von anderen kutanen oder metabolischen Krankheiten eine Herausforderung dar. Differenzialdiagnostisch sind histologische und molekulargenetische Untersuchungen hilfreich. Lebensbedrohliche Initialsymptome, vor allem Störungen im Wasser- und Elektrolythaushalt, können intensivmedizinische Maßnahmen erfordern. Nach klinischer Stabilisierung steht die Pflege der meist sehr trockenen Haut im Vordergrund. Dazu gehören Bäder, welche die Hautabschuppung fördern, sowie rückfettende Salben. Manchmal ist außerdem eine systemische Behandlung mit Retinoiden notwendig. Salizylsäurehaltige Externa sollten im Säuglingsalter wegen der Gefahr einer Salizylatintoxikation nicht zum Einsatz kommen.

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“…Some of the genes involved in the development of other cell-cell junctions, such as the gap junction protein beta (GJB) 2, 3 and 4 genes and the claudin 1 (CLDN1) gene, also contribute to the proper function of the epidermal barrier [40][41][42][43]. phenotype, in which the condition is present at birth, but spontaneously improves [44,45]. A very rare form of this latter clinical variant is the acral self-healing collodion baby, in which the membrane is located on the extremities only [46].…”

Section: Genetics Of the Epidermal Barrier And Associated Diseasesmentioning

confidence: 99%

Pharmacological Targeting of the Epidermal Barrier

Kemény¹,

Nagy²,

Csoma³

et al. 2016

CPD

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The most important function of the skin is to form a barrier between the body and the external environment. The epidermal barrier prevents transepidermal water loss from the skin, but also serves as a barrier to the entry of harmful environmental allergic, toxic or infectious substances. Inherited defects in the genes encoding the components of the epidermal barrier result in the development of rare genetic disorders, whereas polymorphisms in these genes together with environmental factors cause frequent inflammatory skin diseases, such as atopic dermatitis. In this review, components of the skin-barrier function will be reviewed with special emphasis on how the altered epidermal barrier might be repaired. The different strategies to increase the transdermal penetration of drugs is also discussed.3

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Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

Cited by 29 publications

References 50 publications

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

Angeborene Ichthyosen: Warum Lipide in der obersten Hautschicht lebenswichtig sind

Pharmacological Targeting of the Epidermal Barrier

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