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Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia

✍ Scribed by Ka-Lun Yip; Siu-Yuen Chan; Wai-Kee Ip; Yu-Lung Lau

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
19 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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