title: TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
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.
authors.affiliation: 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: roula.ghaoui@health.nsw.gov.au.
authors.forename: Roula
authors.initials: R
authors.lastname: Ghaoui
authors.affiliation: Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Benavides
authors.affiliation: Broad Institute of Harvard and MIT, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
authors.forename: Monkol
authors.initials: M
authors.lastname: Lek
authors.affiliation: Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
authors.forename: Leigh B
authors.initials: LB
authors.lastname: Waddell
authors.affiliation: Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
authors.forename: Simranpreet
authors.initials: S
authors.lastname: Kaur
authors.affiliation: Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria 3052, Australia.
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.affiliation: Broad Institute of Harvard and MIT, Cambridge, MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
authors.affiliation: 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.
authors.forename: Nigel F
authors.initials: NF
authors.lastname: Clarke
authors.affiliation: 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: Sandra.cooper@sydney.edu.au.
authors.forename: Sandra T
authors.initials: ST
authors.lastname: Cooper
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism; D005190:Family; D005260:Female; D006333:Heart Failure / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D055815:Young Adult
chemical_list: D002352:Carrier Proteins
keywords: Cardiac failure; Cardiac transplant; Genetics; Limb-girdle; Muscular dystrophy