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Case Report Open Access

Stormorken syndrome caused by STIM1 mutation: A case report and literature review

Corrigendum in: /10.3892/mi.2023.122
  • Authors:
    • Wenqiang Sun
    • Jinhui Hu
    • Mengzhao Li
    • Jie Huo
    • Xueping Zhu
  • View Affiliations / Copyright

    Affiliations: Department of Neonatology, Children's Hospital of Soochow University, Suzhou, Jiangsu 215025, P.R. China
    Copyright: © Sun et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 29
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    Published online on: September 19, 2022
       https://doi.org/10.3892/mi.2022.54
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Abstract

The aim of the present case study was to identify the genetic cause of a patient with a clinical presentation of tubular aggregate myopathy (TAM)/Stormorken syndrome (STRMK) and review the published clinical data of patients with TAM/STRMK. A child with thrombocytopenia and hyperCKemia at the Children's Hospital of Soochow University were recruited in the study. Peripheral blood samples of the infant and her parents were collected, and then whole‑exome sequencing was performed. Detection of the stromal interaction molecule 1 (STIM1) level of the child was performed using western blot analysis. In addition, a literature review was performed based on a thorough retrieval of published literature from the PubMed database, as well as domestic databases. In the present study, the c.326A>G mutation in a STIM1 allele (p.H109R) was identified only in the child, as opposed to the unaffected parents. The level of STIM1 was not decreased in the child. Among the mutation sites identified in previous studies, there were 46 cases across 30 families of STIM1 EF‑hand mutations, 21 cases across 14 families of STIM1 CC1 mutations and 20 cases across 8 families of calcium release‑activated calcium channel protein 1 mutations, in which 7 parents had the same mutation site as the patient described herein. On the whole, it is demonstrated that TAM/STRMK is an extremely rare disease with autosomal dominant inheritance. Patients often have multisystemic signs. Gene detection at an early stage is helpful for diagnosis. Long‑term exercise training may also have a certain curative effect.
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Spandidos Publications style
Sun W, Hu J, Li M, Huo J and Zhu X: Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122. Med Int 2: 29, 2022.
APA
Sun, W., Hu, J., Li, M., Huo, J., & Zhu, X. (2022). Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122. Medicine International, 2, 29. https://doi.org/10.3892/mi.2022.54
MLA
Sun, W., Hu, J., Li, M., Huo, J., Zhu, X."Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122". Medicine International 2.5 (2022): 29.
Chicago
Sun, W., Hu, J., Li, M., Huo, J., Zhu, X."Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122". Medicine International 2, no. 5 (2022): 29. https://doi.org/10.3892/mi.2022.54
Copy and paste a formatted citation
x
Spandidos Publications style
Sun W, Hu J, Li M, Huo J and Zhu X: Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122. Med Int 2: 29, 2022.
APA
Sun, W., Hu, J., Li, M., Huo, J., & Zhu, X. (2022). Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122. Medicine International, 2, 29. https://doi.org/10.3892/mi.2022.54
MLA
Sun, W., Hu, J., Li, M., Huo, J., Zhu, X."Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122". Medicine International 2.5 (2022): 29.
Chicago
Sun, W., Hu, J., Li, M., Huo, J., Zhu, X."Stormorken syndrome caused by <em>STIM1</em> mutation: A case report and literature review Corrigendum in /10.3892/mi.2023.122". Medicine International 2, no. 5 (2022): 29. https://doi.org/10.3892/mi.2022.54
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