In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides.

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.

authors

Rattanachartnarong N,Tongkobpetch S,Chatchatee P,Daengsuwan T,Ittiwut C,Suphapeetiporn K,Shotelersuk V

doi

10.1007/s00005-014-0283-0

subject

Has Abstract

pub_date

2014-10-01 00:00:00

pages

431-6

issue

5

eissn

0004-069X

issn

1661-4917

journal_volume

62

pub_type

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