MT-CYB Gene Mutation Associated With the Hypermobility Variant of Ehlers-Danlos Syndrome: A Case Study




Sudanagunta, Sneha
Shrestha, Ribesh
Lee, Yein


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Background: Ehlers-Danlos Syndrome (EDS) is a group of disorders that are associated with defects in collagen. They present with symptoms ranging from loose skin to hypermobile joints to fragile tissues leading to organ and vessel ruptures. Most genetic screenings for EDS reveal a mutation in either the COL5A1 or the COL3A1 genes. In this case, we present a mitochondrial gene mutation that could be suggested as a variation of hEDS. Additionally, due to the variable, yet treatable, combination of symptoms this patient presented with, treatment plans were tailored specifically to her requirements to minimize her symptoms. Case Information: A 31-year-old female doctorate student in flute performance presented to the outpatient clinic radicular pain from a C6 disc herniation. The patient began experiencing syncopal episodes, one of which resulted in a car accident. Past medical history includes polycystic ovarian syndrome, migraines, and scoliosis. Genetic testing revealed a mutation in the mitochondrial MT-CYB gene that could be associated with the Articulo-Autonomic Dysplasia variant of EDS. Conclusion: EDS can present with a wide constellation of symptoms that can be managed to maximize the quality of life; therefore, it is pivotal to identify and diagnose patients with EDS early in their presentation. This case report identifies a mitochondrial mutation in the MT-CYB gene that may significantly affect the quality of life of patients if screened for during genetic testing. Additionally, with a correct diagnosis, this patient received appropriate medical care that allowed her to continue her performances.