TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Roula Ghaoui; Tatiana Benavides; Monkol Lek; Leigh B Waddell; Simranpreet Kaur; Kathryn N North; Daniel G MacArthur; Nigel F Clarke; Sandra T Cooper

doi:10.1016/j.nmd.2016.05.013

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

Authors

Roula Ghaoui¹, Tatiana Benavides², Monkol Lek³, Leigh B Waddell², Simranpreet Kaur², Kathryn N North⁴, Daniel G MacArthur³, Nigel F Clarke⁵, Sandra T Cooper⁶

Affiliations

¹ Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address: [email protected].
² Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
³ Broad Institute of Harvard and MIT, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
⁴ Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria 3052, Australia.
⁵ Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia.
⁶ Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address: [email protected].

PMID: 27342937
DOI: 10.1016/j.nmd.2016.05.013

Abstract

TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular dystrophy. We demonstrate an absence of TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings. We expand the phenotype of this gene to demonstrate the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1AIP1.

Keywords: Cardiac failure; Cardiac transplant; Genetics; Limb-girdle; Muscular dystrophy.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Carrier Proteins / genetics*
Carrier Proteins / metabolism
Family
Female
Heart Failure / diagnostic imaging
Heart Failure / genetics*
Heart Failure / pathology
Heart Failure / surgery
Humans
Male
Muscle, Skeletal / diagnostic imaging
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscular Dystrophies, Limb-Girdle / diagnostic imaging
Muscular Dystrophies, Limb-Girdle / genetics*
Muscular Dystrophies, Limb-Girdle / pathology
Mutation
Myocardium / metabolism
Myocardium / pathology
Phenotype
Young Adult

Substances

Carrier Proteins