title: 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.affiliation: Department of Pediatrics, Faculty of Medicine, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, 10330, Thailand.
authors.forename: Natthakorn
authors.initials: N
authors.lastname: Rattanachartnarong
authors.forename: Siraprapa
authors.initials: S
authors.lastname: Tongkobpetch
authors.forename: Pantipa
authors.initials: P
authors.lastname: Chatchatee
authors.forename: Tassalapa
authors.initials: T
authors.lastname: Daengsuwan
authors.forename: Chupong
authors.initials: C
authors.lastname: Ittiwut
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001483:Base Sequence; D002478:Cells, Cultured; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D015316:Genetic Therapy; D006801:Humans; D066298:In Vitro Techniques; D007438:Introns / Q000235:genetics; D007963:Leukocytes, Mononuclear / Q000502:physiology*; D008297:Male; D008969:Molecular Sequence Data; D060172:Morpholinos / Q000235:genetics; D016254:Mutagenesis, Insertional / Q000235:genetics; D020320:Oligoribonucleotides, Antisense / Q000235:genetics; D011110:Polymorphism, Genetic; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism*; D012326:RNA Splicing / Q000235:genetics; D013785:Thailand
chemical_list: D060172:Morpholinos; D020320:Oligoribonucleotides, Antisense; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human