Stormorken Syndrome Caused by STIM1 H109R Mutation:A Literature Review and a Case Study

Published: 15 September 2021| Version 1 | DOI: 10.17632/rjmn9x7fb9.1
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Background. The purpose of this paper is to explore the clinical features, diagnosis, and treatment of STRMK. Methods.The clinical data of a STRMK infant in Children's Hospital of Soochow University were retrospectively analyzed. The peripheral blood samples of the infant and her parents were collected, and then the whole-exome sequencing was performed. Relevant bio-information analysis was performed on STIM1. The expression of STRMK was analyzed by Western blotting. The literature review is based on a thorough retrieval of the databases from Pubmed and domestic databases of China. Results. We identified the c326A>G transition in a STIM1 allele (p.H109R) only in patients and not in unaffected parents. The structure of this mutation site was related to the calcium-binding domain. The variant does not cause the change of STIM1 levels. Our literature search revealed only a few reported cases of suspected STRMK (47 families, 82 cases). Conclusions. The variant unlocks the inhibitory state of STIM1, further induces the constitutive activation of ORAI1, and causes excessive Ca2+ influx into muscle cells. Patients often have extensive and atypical manifestations. Gene detection at an early stage is helpful to diagnose the disease and reduce the abuse of steroid hormones. Long-term exercise training and selenium supplement therapy have a certain curative effect on it.

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Clinical Genetics, Pediatrics, Gene Mutation

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