Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
| Autor: | Zan-Hua Rong, Li-Jun Jiang, Zhi-Yan Dou, Qingxiao Su, Xue Zhao |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
STIM1 Case Report thrombocytopenia Biology Gene mutation Genetic analysis 03 medical and health sciences 0302 clinical medicine Atrophy medicine Missense mutation RC346-429 Genetics Muscle biopsy medicine.diagnostic_test Transition (genetics) Skeletal muscle tubular aggregate myopathy stormorken syndrome medicine.disease 030104 developmental biology medicine.anatomical_structure Neurology Mutation (genetic algorithm) Neurology (clinical) Neurology. Diseases of the nervous system mutation 030217 neurology & neurosurgery |
| Zdroj: | Frontiers in Neurology, Vol 12 (2021) Frontiers in Neurology |
| ISSN: | 1664-2295 |
| DOI: | 10.3389/fneur.2021.522513/full |
| Popis: | Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype.Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome by laboratory tests, muscle biopsies, and genetic analysis. We used this information to summarize all the mutation sites reported in the literature. We also reviewed the clinical features of published cases with a gain of function mutations of STIM1.Results: A 12-year-old Chinese female presented with skin purpura in the lower limbs and stroke-like episodes. Muscle biopsy and microscopic examination revealed atrophy in her skeletal muscle. Genetic analysis identified a novel heterozygous missense mutation, a c.1095G>C transition (NM_003156.3), which caused a p.K365N amino acid substitution in the protein and affected a STIM1-orai1-activation region (SOAR).Conclusions: The novel variant c.1095G>C transition (NM_003156.3) was located in the SOAR, which expands the phenotypic spectrum of STIM1 variants in human disorders and may define the molecular basis of Stormorken syndrome. |
| Databáze: | OpenAIRE |
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