Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies

Takeichi, Takuya; Ohno, Yusuke; Tanahashi, Kana; Ito, Yoichi; Shiraishi, Ken; Utsunomiya, Ryo; Yoshida, Shizuo; Ikeda, Kouji; Nomura, Hayato; Morizane, Shin; Sayama, Koji; Ogi, Tomoo; Muro, Yoshinao; Kihara, Akio; Akiyama, Masashi

doi:10.1016/j.jlr.2022.100308

Cited by 4 publications

(2 citation statements)

References 35 publications

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“…All research was performed in accordance with the principles of the Declaration of Helsinki after ethical approval was obtained. Whole‐exome sequencing of DNA extracted from the peripheral blood of the patient by previously described methods with slight modifications 2 showed that the patient had the hotspot missense variant p.Arg127Leu in KRT16 . We confirmed its presence by Sanger sequencing and demonstrated its absence in genomic DNA from both parents, consistent with a de novo dominant variant.…”

Section: Figurementioning

confidence: 99%

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

Noda,

Takeichi,

Tanahashi

et al. 2024

The Journal of Dermatology

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Section: Figurementioning

confidence: 99%

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

Noda,

Takeichi,

Tanahashi

et al. 2024

The Journal of Dermatology

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“…Genomic DNA from the patient's peripheral blood leukocytes was used for Sanger sequencing analysis and whole‐exome sequencing performed by Macrogen Japan Corp., to identify a disease‐associated variant 5 …”

Section: Experimental Designmentioning

confidence: 99%

Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis

Takeichi

Yoshikawa

Iqbal

et al. 2023

Experimental Dermatology

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Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.1810C>T p.(Arg604Cys), in MPO. Our structural analysis and functional assays to measure myeloperoxidase activity suggest that the present MPO substitution is a hypomorphic variant in MPO. Thus, the mild phenotype of the present GPP patient might be associated with an incomplete hypomorphic loss‐of‐function variant in MPO. Additionally, the severe intractable edematous pustules and erythema improved dramatically after five rounds of granulocyte and monocyte adsorption apheresis (GMA) therapy. This is the first report of GMA treatment for GPP associated with a pathogenic variant in MPO, as far as we know. Our findings suggest that GMA might be a useful and powerful tool for controlling GPP in patients with myeloperoxidase deficiency.

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Human genetic defects of sphingolipid synthesis

Dubot,

Sabourdy,

Levade

2024

J of Inher Metab Disea

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Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids. In many instances, these gene variants result in the loss of catalytic function of the mutated enzymes. Additional gene defects implicate the subcellular localization of the sphingolipid‐synthesizing enzyme, the regulation of its activity, or even the function of a sphingolipid‐transporter protein. The resulting metabolic alterations lead to two major, non‐exclusive types of clinical manifestations: a neurological disease, more or less rapidly progressive, associated or not with intellectual disability, and an ichthyotic‐type skin disorder. These phenotypes highlight the critical importance of sphingolipids in brain and skin development and homeostasis. The present article reviews the clinical symptoms, genetic and biochemical alterations, pathophysiological mechanisms and therapeutic options of this relatively novel group of metabolic diseases.

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Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies

Cited by 4 publications

References 35 publications

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology

Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis

Human genetic defects of sphingolipid synthesis

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