A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Yanagishita, Tomoe; Eto, Kaoru; Yamamoto-Shimojima, Keiko; Segawa, Osamu; Nagata, Masanobu; Ishihara, Yasuki; Miyashita, Yohei; Asano, Yoshihiro; Sakata, Yasushi; Nagata, Satoru; Yamamoto, Toshiyuki

doi:10.1038/s41439-021-00148-8

Cited by 4 publications

(3 citation statements)

References 10 publications

(12 reference statements)

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“…The transcription factor encoded by the ZSWIM6 gene is synthesized in the brain and can affect the expression of a number of genes. Mutations in this gene lead to malformations of the brain [91][92][93]. Figure 11 shows the binding schemes of piR-3215034 and piR-6885965 to the mRNA of the ZSWIM6 gene.…”

Section: Resultsmentioning

confidence: 99%

piRNAs and miRNAs Can Bind to mRNA of KLOTHO and FGF23 Genes

Ivashchenko,

Akhmetova,

Zhanuzakov

et al. 2023

Preprint

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The problem of increasing life expectancy is solved with the help of many medical and social areas. It has been established that piRNAs and miRNAs can significantly modify the expression of protein-coding genes by suppressing the translation process. The aim of this work was to establish the possibility of binding piRNAs and miRNAs with mRNA of the KLOTHO and FGF23 genes, which promote health and increase life expectancy through participation in key metabolic processes. We used the MirTarget program, which determines the quantitative characteristics of complementary interactions of all piRNAs and miRNAs nucleotides with mRNA of the genes. piR-44682, piR-1940042, piR-3008660, piR-3215034, piR-6885965, piR-7980636 and one miRNA (ID00756.3p-miR) binding to the mRNA of the KLOTHO gene were found in one cluster of binding sites (BSs). piRNA-6890096 interacted with the mRNA of KLOTHO gene in a fully complementary manner using only canonical nucleotides. Among 17494 human genes, target genes interacting with five piRNAs that bind to the mRNA of KLOTHO gene were identified. mRNA of the AFF2, BCL2L11, CPT1A, DAZAP1, NDRG3, SKIDA1, WBP4, ZIC5, ZSWIM6 genes interacted with piR-3215034 and piR-6885965, which formed clusters of BSs located in 5'UTR, CDS and 3'UTR. The piR-576442, piR-1501557, piR-1845735, piR-2069834, and piR-3029987 had BSs in the mRNAs of the FGF23 gene, located only in the 3'UTR. It is proposed to use piRNAs and miRNAs as regulators of the expression of KLOTHO and FGF23 anti-aging genes.

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Section: Resultsmentioning

confidence: 99%

piRNAs and miRNAs Can Bind to mRNA of KLOTHO and FGF23 Genes

Ivashchenko,

Akhmetova,

Zhanuzakov

et al. 2023

Preprint

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“…In alcohol injured liver, ZSWIM3 inhibits inflammation by binding with tumor necrosis factor receptor-associated factor 2 to mediate the activation of the nuclear transcription factor κB (NF-κB) pathway in macrophages [ 36 ]. ZSWIM6 is associated with acromelic frontonasal dysostosis [ 37 ] and neuronal development [ 38 , 39 ]. ZSWIM7 is associated with ovarian insufficiency [ 40 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

Entry of ZSWIM4 to the nucleus is crucial for its inhibition of KIT and BMAL1 in gastrointestinal stromal tumors

Cao,

Tian,

Cheung

et al. 2024

Cell Biosci

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Background Zinc finger SWIM-type containing 4 (ZSWIM4) is a zinc finger protein with its function largely uncharacterized. In this study, we aimed to investigate the role of ZSWIM4 in gastrointestinal stromal tumors (GISTs). Results We found that ZSWIM4 expression is inhibited by the predominantly mutated protein KIT in GISTs, while conversely, ZSWIM4 inhibits KIT expression and downstream signaling. Consistent with the observation, ZSWIM4 inhibited GIST cell survival and proliferation in vitro. RNA sequencing of GISTs from KITV558A/WT mice and KITV558A/WT/ZSWIM4−/− mice showed that loss of ZSWIM4 expression increases the expression of circadian clock pathway member BMAL1 which contributes to GIST cell survival and proliferation. In addition, we found that KIT signaling increases the distribution of ZSWIM4 in the nucleus of GIST cells, and which is important for its inhibition of KIT and BMAL1. In agreement with the results in vitro, the in vivo studies showed that ZSWIM4 deficiency increases the tumorigenesis of GISTs in KITV558A/WT mice. Conclusions Taken together, our results revealed that the entry of ZSWIM4 to the nucleus is important for its inhibition of KIT and BMAL1, ultimately attenuating GIST tumorigenesis. The results provide a novel insight in the understanding of signal transduction in GISTs and lay strong theoretical basis for the advancement of GIST treatment.

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“…Due to the patient’s unclear diagnosis, we enrolled her in the “Initiative on Rare and Undiagnosed Diseases” (IRUD) research project 2 , 3 . This study was performed in accordance with the Declaration of Helsinki and was approved by the ethics committee of our institution.…”

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confidence: 99%

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

et al. 2021

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A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders.

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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Cited by 4 publications

References 10 publications

piRNAs and miRNAs Can Bind to mRNA of <i>KLOTHO</i> and <i>FGF23</i> Genes

piRNAs and miRNAs Can Bind to mRNA of <i>KLOTHO</i> and <i>FGF23</i> Genes

Entry of ZSWIM4 to the nucleus is crucial for its inhibition of KIT and BMAL1 in gastrointestinal stromal tumors

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

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