Identification of mutations in the Bruton's tyrosine kinase gene,including a novel genomic rearrangements resulting in large deletion,in Korean X-linked agammaglobulinemia patients |
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Authors: | Jo Eun-Kyeong Wang Yue Kanegane Hirokazu Futatani Takeshi Song Chang-Hwa Park Jeong-Kyu Kim Jung Soo Kim Dong Soo Ahn Kang-Mo Lee Sang-Il Park Hyeon Jin Hahn Youn Soo Lee Jae-Ho Miyawaki Toshio |
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Institution: | (1) Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea;(2) Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, 2630 Sugitani, Toyama 930-0194, Japan;(3) Department of Pediatrics, Chonbuk National University Medical School, Jeonbuk, Korea;(4) Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea;(5) Department of Pediatrics, Samsung Medical Center, Seoul, Korea;(6) Department of Pediatrics, College of Medicine, Chungbuk National University, Chungbuk, Korea;(7) Department of Pediatrics, College of Medicine, Chungnam National University, Daejeon, Korea |
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Abstract: | Mutations in the Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). We identified BTK mutations in six patients with presumed XLA from unrelated Korean families. Four out of six mutations were novel: two missense
mutations (P565T, C154Y), a point mutation in a splicing donor site (IVS11+1G>A), and a large deletion (a 6.1-kb deletion
including BTK exons 11–18). The large deletion, identified by long-distance PCR, revealed Alu-Alu mediated recombination extended from an Alu sequence in intron 10 to another Alu sequence in intron 18, spanning a distance of 6.1 kb. The two known mutations consisted of one missense (G462D) mutation,
and a point mutation in a splicing acceptor site (IVS7−9A>G). This study suggests that large genomic rearrangements involving Alu repeats are few but an important component of the spectrum of BTK mutations. |
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Keywords: | X-linked agammaglobulinemia Bruton's tyrosine kinase Mutation Alu repeat recombination Korea |
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