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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / diagnosis*
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Agammaglobulinemia / genetics
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Agammaglobulinemia / therapy
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Base Sequence
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Cells, Cultured
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Child, Preschool
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Genetic Diseases, X-Linked / diagnosis*
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Genetic Diseases, X-Linked / genetics
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Genetic Diseases, X-Linked / therapy
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Genetic Therapy
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Humans
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In Vitro Techniques
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Introns / genetics
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Leukocytes, Mononuclear / physiology*
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Male
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Molecular Sequence Data
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Morpholinos / genetics
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Mutagenesis, Insertional / genetics
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Oligoribonucleotides, Antisense / genetics
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Polymorphism, Genetic
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Protein-Tyrosine Kinases / genetics
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Protein-Tyrosine Kinases / metabolism*
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RNA Splicing / genetics
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Thailand
Substances
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Morpholinos
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Oligoribonucleotides, Antisense
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
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BTK protein, human
Supplementary concepts
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Bruton type agammaglobulinemia