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In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides |
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| Authors: | Natthakorn Rattanachartnarong Siraprapa Tongkobpetch Pantipa Chatchatee Tassalapa Daengsuwan Chupong Ittiwut Kanya Suphapeetiporn Vorasuk Shotelersuk |
| Affiliation: | 1. Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, 10330, Thailand 2. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, 10330, Thailand 3. Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand 4. Division of Allergy and Immunology, Children’s Hospital, Bangkok, Thailand 5. Division of Medical Genetics and Metabolism, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Sor Kor Building 11th Floor, Bangkok, 10330, Thailand |
| 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. |
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