title: Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.
abstract: Bruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients from 8 families. Family 1 had a novel point mutation at the start codon (135G-->T) in exon 2. Family 2 had known mutation of single A insertion in a stretch of 7 A residues (341-347insA) recognized as mutation hotspot in exon 3. Family 3 had a novel point mutation in exon 11 (1074A-->G) which led to aberrant splicing. Family 4 had known mutation in exon 19 (2053C-->T) in CpG mutation hotspot. The novel mutation of family 5 was an A deleted in a run of three As (1017-1019delA) in exon 10. In family 6, exons 2 and 3 were lost in BTK mRNA, a novel deletion. Family 7 had a novel substitution in exon 2 (227T-->C) which led to change of a conserved leucine to serine. Family 8 had a novel point mutation at beginning of intron 14 (IVS14+ 6 T-->G) resulting in aberrant splicing. Hum Mutat 15:385, 2000.
authors.affiliation: Department of Paediatrics, The University of Hong Kong, Hong Kong.
authors.forename: K L
authors.initials: KL
authors.lastname: Yip
authors.forename: S Y
authors.initials: SY
authors.lastname: Chan
authors.forename: W K
authors.initials: WK
authors.lastname: Ip
authors.forename: Y L
authors.initials: YL
authors.lastname: Lau
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000201:enzymology* / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D002681:China; D016368:Frameshift Mutation / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human