title: A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.
abstract: FHL1, BAG3, MATR3 and PTRF are recently identified myopathy genes associated with phenotypes that overlap muscular dystrophy. TCAP is a rare reported cause of muscular dystrophy not routinely screened in most centres. We hypothesised that these genes may account for patients with undiagnosed forms of muscular dystrophy in Australia. We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9), MATR3 (n=15) and PTRF (n=7). We found one FHL1 mutation (c.311G>A, p.C104Y) in a boy with rapidly progressive muscle weakness and reducing body myopathy who was initially diagnosed with muscular dystrophy. We identified no pathogenic mutations in BAG3, MATR3, PTRF or TCAP. In conclusion, we have excluded these five genes as common causes of muscular dystrophy in Australia. Patients with reducing body myopathy may be initially diagnosed as muscular dystrophy.
authors.affiliation: Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.
authors.forename: Leigh B
authors.initials: LB
authors.lastname: Waddell
authors.forename: Jenny
authors.initials: J
authors.lastname: Tran
authors.forename: Xi F
authors.initials: XF
authors.lastname: Zheng
authors.forename: Carsten G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Frances J
authors.initials: FJ
authors.lastname: Evesson
authors.forename: Monkol
authors.initials: M
authors.lastname: Lek
authors.forename: Susan
authors.initials: S
authors.lastname: Arbuckle
authors.forename: Min-Xia
authors.initials: MX
authors.lastname: Wang
authors.forename: Robert L
authors.initials: RL
authors.lastname: Smith
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.forename: Nigel F
authors.initials: NF
authors.lastname: Clarke
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins; D001315:Australia / Q000453:epidemiology; D015331:Cohort Studies; D064211:Connectin; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; C414431:BAG3 protein, human; C497835:CAVIN1 protein, human; D064211:Connectin; C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; C518587:MATR3 protein, human; D009124:Muscle Proteins; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins; C577292:TCAP protein, human