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Condition report · Musculoskeletal

TOR1AIP1-Related Multisystem Disorder

A rare inherited condition affecting many body systems, with muscle weakness, heart problems, cataracts and hearing loss. It is caused by changes in both copies of the TOR1AIP1 gene, which helps maintain the cell nucleus.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of TOR1AIP1, which encodes LAP1, a protein of the inner nuclear membrane. Complete loss causes a severe early-onset multisystem disorder, while milder changes can cause a muscle-predominant form.

Signs and symptoms

Severe forms present in infancy with growth failure, cataracts, hearing loss, heart problems and premature-ageing features. Milder forms cause progressive limb-girdle muscle weakness, joint contractures and cardiomyopathy.

What a diagnosis changes

Regular heart, eye and hearing review, with physiotherapy and orthopaedic care. Carrier testing of relatives and genetic counselling are available.

Genes analysed

MONDO:0100591Sources: [1][2][3]

References

  1. Mackels L, Liu X, Bonne G, Servais L, 2023. TOR1AIP1-Associated Nuclear Envelopathies. International journal of molecular sciences
  2. Lessel I, Chen MJ, Lüttgen S, Arndt F, Fuchs S, Meien S et al., 2020. Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Human genetics
  3. Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY et al., 2022. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathology and applied neurobiology

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