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Figure 5 | BMC Medical Genetics

Figure 5

From: Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

Figure 5

Patient XXXV: Coding region point mutation activates a cryptic exonic splice site. The mutation is localized in exon 65 (see schematic representation of the DMD gene). A. Sequence analysis. An electropherogram depicting the nucleotide substitution c.9560A>G, which would putatively result in an amino acid substitution (p.Asp3187Gly). B. Transcript analysis. The nucleotide substitution activates a cryptic splice site with skipping of the last 4 nucleotides of exon 65 (Pt: patient; Ctr: control), which changes the reading frame.

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BMC Medical Genetics

ISSN: 1471-2350

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