A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients

作者：Waddell, Leigh B.; Tran, Jenny; Zheng, Xi F.; Boennemann, Carsten G.; Hu, Ying; Evesson, Frances J.; Lek, Monkol; Arbuckle, Susan; Wang, Min-Xia; Smith, Robert L.; North, Kathryn N.; Clarke, Nigel F.^*

来源：Neuromuscular Disorders, 2011, 21(11): 776-781.

DOI：10.1016/j.nmd.2011.05.007

• Muscular dystrophy
• Diagnosis
• FHL1
• BAG3
• MATR3
• PTRF
• TCAP

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.

• 出版日期2011-11