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In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides

Authors: 
Rattanachartnarong N, Tongkobpetch S, Chatchatee P, Daengsuwan T, Ittiwut C, Suphapeetiporn K, Shotelersuk V
Citation: 
Arch Immunol Ther Exp (Warsz). 2014 Mar 23. [Epub ahead of print]
Abstract: 
A novel sequence variant, c.240+109C>A, in the Bruton's tyrosine kinase (BTK) gene was identified in a patient with X-linked agammaglobulinemia. This alteration resulted in an incorporation of 106 nucleotides of BTK intron 3 into its mRNA. Administration of the 25-mer antisense morpholino oligonucleotide analog in the patient's cultured peripheral blood mononuclear cells was able to restore correctly spliced BTK mRNA, a potential treatment for X-linked agammaglobulinemia.
Epub: 
Yes
Link to Publication: 
http://link.springer.com/article/10.1007%2Fs00005-014-0283-0
Organism or Cell Type: 
Cell culture: human peripheral blood mononuclear cells