title: A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency.
abstract: A novel insertion mutation in exon 6 of the Btk gene was detected in a 17 year-old XLA patient with GH insufficiency. We synthesized cDNA from leukocyte total RNA and amplified every region of the Btk-coding sequence. Sequencing of cDNA fragments revealed a single basepair insertion mutation at codon 157 in exon 6 (CAG-->CAAG) which leads to premature termination at codon 193 in exon 7. To confirm the results, we also performed a PCR-DdeI digestion analysis using leukocyte genomic DNA. The PCR product from the patient's genomic DNA was uncleaved with DdeI, as expected. PCR-DdeI digestion analysis of the family members showed that the mother and elder sister were carriers with the mutation and that the younger sister did not carry the mutation.
authors.affiliation: Department of Public Health, Shinko Hospital, Kobe, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Abo
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: M J
authors.initials: MJ
authors.lastname: Lee
authors.forename: D
authors.initials: D
authors.lastname: Tsuzuki
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: S
authors.initials: S
authors.lastname: Yoshida
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
authors.forename: K
authors.initials: K
authors.lastname: Sumino
mesh_terms: D000293:Adolescent; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics* / Q000503:physiopathology; D001483:Base Sequence; D018388:Codon, Terminator / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D008040:Genetic Linkage; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics
chemical_list: D018388:Codon, Terminator; D017931:DNA Primers; D019382:Human Growth Hormone; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human