Aug 25, 2017
Torsin 1A interacting protein 1
The TOR1AIP1 gene codes for a nuclear membrane protein (Kayman-Kurekci et al., 2014).
Changes in the TOR1AIP1 gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this patient.
The participant, a 16-year-old female with progressive muscle weakness was found to carry the following genetic changes in the TOR1AIP1 gene: c.1427C>T and c.554-4G>A.
At the age of 8, the patient started having difficulty climbing at school. She was unable to pull herself onto a horse, get into the car, and walked differently than other children. At age 9, her CK level was high (around 11,000). Muscle biopsies showed mild muscle disease (myopathy) without inflammation and an MRI showed muscle inflammation (myositis) in the pelvis, thigh, and calves. Genetic testing for a number of muscular dystrophies was negative. The patient now routinely uses a wheelchair and has weakness in her upper body.
The patient also has shallow breathing at night (exertional dyspnea) and difficulty swallowing (dysphagia). These are thought to be due to her muscle weakness. Some of her other symptoms include shrinking muscle fibers (muscle fiber atrophy) and abnormal electrical activity in her muscles (myopathic abnormalities).
Some of her other features include:
Interested in learning more about this gene or sharing what you know? Contact us!