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- W2045588316 abstract "We reported a patient with a premature stop codon mutation (c.9G > A; Trp3X) in exon 1 of the DMD gene predicted to result in a Duchenne (DMD) phenotype; however, the patient has Becker Muscular Dystrophy (BMD) and can ambulate at age 62. Three potential mechanisms may explain the phenotype: readthrough of the premature UGA codon; upregulation of alternate full-length DMD isoforms; or translational initiation at a downstream methionine codon. A snap-frozen muscle biopsy from the patient was analyzed by immunofluorescence (IF) and immunoblot (IB) using a panel of antibodies. Quantitative RT-PCR of Dp427m, Dp427p, and Dp427c mRNAs was performed, normalized against a housekeeping gene. Readthrough was determined using a dual luciferase reporter system in HEK293 cells. Only a low level (<1%) translational readthrough of the Trp3X stop codon was detected. Upregulation (2.5-fold) of the Dp427c mRNA alone was noted. Both IF and IB demonstrated significant dystrophin expression with dys1, dys2, and dys3 antibodies, but not with ManEx1a (recognizing an exon 1-encoded epitope specific to the Dp427m isoform); a decrease in size was suggested by IB. A biochemical approach that would verify the downstream initiation hypothesis is currently being developed. We have identified only four more patients with exon 1 mutations (two Trp3X, Trp4X, and c.15delA). All have BMD, which leads us to postulate that a mechanism(s) exist which ameliorates the detrimental effect of exon 1 mutations." @default.
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- W2045588316 date "2006-10-01" @default.
- W2045588316 modified "2023-10-18" @default.
- W2045588316 title "G.P.6 08 Mechanisms for dystrophin expression in BMD patients with premature stop codons and frameshift mutations in DMD exon 1" @default.
- W2045588316 doi "https://doi.org/10.1016/j.nmd.2006.05.183" @default.
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