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

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 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 EF-hand mutations, 21 cases across 14 families of 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.