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To the Editor:
Kono et al.1 reported the effects of a novel c.8107del mutation in the filamin C gene (FLNC). We reviewed their results and concluded that the reported mutation was mistaken identity.
Molecular diagnosis of filamin myopathy is hampered by a pseudogene located on chromosome 7q32-q35 about 53.6 kilobases downstream from the functional filamin C gene. The pseudogene is >98% homologous to exons 46, 47, and 48 of the functional FLNC. The c.8107del variant in conjunction with c.8118C>T and c.8121T>C are found in the pseudogene.
We characterized sequence mismatches between the functional FLNC and the pseudogene and devised an optimized strategy preventing complications in patient testing.2 We determined that the results of FLNC studies have been erroneous including 8 reports of polymorphisms deposited in The …
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