Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family

Abstract Background Ca 2+ as a universal second messenger regulates basic biological functions including cell cycle, proliferation, differentiation, and death. Lack of the protein mitochondrial calcium uptake1 (MICU1), which has been regarded gatekeeper ions, leads to abnormal handling, excessive production reactive oxygen species (ROS), increased Mutations in MICU1 gene causes very rare neuromuscular disease, myopathy with extrapyramidal signs (MPXPS), due primary alterations signaling demonstrates key role uptake. To date, 13 variants have reported 44 patients presented vast spectrum symptoms. Case presentation Here, we report 44-year-old Iranian patient learning disability, muscle weakness, easy fatigability, reduced tendon reflexes, ataxia, gait disturbance, elevated hepatic transaminases, serum creatine kinase (CK), lactate dehydrogenase (LDH). We identified novel nonsense variant c.385C>T; p.(R129*) by whole exome sequencing (WES) segregation analysis. Conclusions Our finding along previous studies provides more evidence on clinical disease caused pathogenic mutations . Finding expanding increases diagnostic rate molecular testing screening this kind diseases turn improves quality counseling for at risk couples helps them minimize risks having affected children.