Fig. 2: Reverse transcription polymerase chain reaction (RT-PCR) analysis in patient 078. | Genetics in Medicine

Fig. 2: Reverse transcription polymerase chain reaction (RT-PCR) analysis in patient 078.

From: Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Fig. 2

RT-PCR analysis across exons 83 and 84 of SYNE1 demonstrated aberrant splicing with the c.16024-13C>G variant being used as a cryptic splice acceptor site. Both the normal and aberrant splice product was observed in patient 078 compared with only a normal splice product in the normal control sample. Aberrant splicing at the c.16024-13C>G site results in the creation of a truncating TGA stop codon immediately after the splice site

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