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In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides.
- Source :
-
Archivum immunologiae et therapiae experimentalis [Arch Immunol Ther Exp (Warsz)] 2014 Oct; Vol. 62 (5), pp. 431-6. Date of Electronic Publication: 2014 Mar 23. - Publication Year :
- 2014
-
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.
- Subjects :
- Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia genetics
Agammaglobulinemia therapy
Base Sequence
Cells, Cultured
Child, Preschool
Genetic Diseases, X-Linked genetics
Genetic Diseases, X-Linked therapy
Genetic Therapy
Humans
In Vitro Techniques
Introns genetics
Male
Molecular Sequence Data
Morpholinos genetics
Mutagenesis, Insertional genetics
Oligoribonucleotides, Antisense genetics
Polymorphism, Genetic
Protein-Tyrosine Kinases genetics
RNA Splicing genetics
Thailand
Agammaglobulinemia diagnosis
Genetic Diseases, X-Linked diagnosis
Leukocytes, Mononuclear physiology
Protein-Tyrosine Kinases metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1661-4917
- Volume :
- 62
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Archivum immunologiae et therapiae experimentalis
- Publication Type :
- Academic Journal
- Accession number :
- 24658450
- Full Text :
- https://doi.org/10.1007/s00005-014-0283-0