TOR1AIP1

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

 Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Aug 25, 2017

Full Name

Torsin 1A interacting protein 1

Location
Chromosome 1 (1q25.2)


Function

The TOR1AIP1 gene codes for a nuclear membrane protein (Kayman-Kurekci et al., 2014).

Database Links

GeneCards: GC01P179851

Genetics Home Reference: TOR1AIP1 gene

NCBI Gene: 26092

OMIM: 614512

UniProtKB/Swiss-Prot: Q5JTV8

Clinical Significance

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.

Gene TOR1AIP1
Inheritance Pattern Autosomal recessive
Position chr1:179887049 & chr1:179858444
Transcript NM_015602
DNA Change c.1427C>T & c.554-4G>A
Protein Change p.Ala476Val & N/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:

  • Respiratory insufficiency due to muscle weakness
  • Abnormal walk (waddling gait)
  • Abnormal enzyme activity (abnormal lactate dehydrogenase activity)
  • Increased muscle enzyme level (elevated aldolase level)
  • Abnormal liver enzymes (elevated hepatic transaminases)
  • Involuntary urination (urinary incontinence)
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