✦ LIBER ✦

Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia

✍ Scribed by Tracy L. Hagemann; Fred S. Rosen; Sau-Ping Kwan

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 845 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050405

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by David Ginsburg

Bruton's tyrosine kinase (Btk) has been identified as the protein responsible for the primary immunodeficiency X-linked agammaglobulinemia (XLA) and has been described as a new member of Srcrelated cytoplasmic protein tyrosine kinases. We have recently characterized the structure of the entire gene encoding Btk and developed a polymerase chain reaction (PCR)-based assay to detect germline mutations within it. In this report we describe six mutations, five of which are novel, of the Btk gene in patients with XLA and demonstrate the inheritance pattern of the defect within the families of the affected individuals. The mutations found include two nonsense and two missense mutations, a single base deletion at an intron acceptor splice site, and a 16-bp insertion. A single strand conformation polymorphism was also found in the 5' end of intron 8 with the same assay. This technique has provided a powerful tool for direct analysis of the Btk gene for the diagnosis of XLA and carrier detection. The identification of new mutations may eventually reveal the role of Btk in the signaling pathways involved in B-cell development. o 1995 ~i ~e y -~i s s , Inc.

📜 SIMILAR VOLUMES

Bruton's tyrosine kinase mutations in 8

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

✍ Ka-Lun Yip; Siu-Yuen Chan; Wai-Kee Ip; Yu-Lung Lau 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

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 fro

Bruton tyrosine kinase gene mutations in

Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia

✍ Yue Wang; Hirokazu Kanegane; Ozden Sanal; Fügen Ersoy; Ilhan Tezcan; Takeshi Fut 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB

Communicated by Mark H. Paalman X-linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood

Identification of the bruton tyrosine ki

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)

✍ Marija Velickovic; Madhuri L. Prasad; Susan A. Weston; Elizabeth M. Benson 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.86

Identification of mutations of Bruton's

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia

✍ Sergio Massayuki Tani; Yue Wang; Hirokazu Kanegane; Takeshi Futatani; Jorge Pint 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB

Mutations in the Bruton tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in the peripheral blood. We evaluated 17 male Brazilian patients

Mutations of the human BTK gene coding f

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

✍ Mauno Vihinen; Sau-Ping Kwan; Tracy Lester; Hans D. Ochs; Igor Resnick; Jouni Vä 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB 👁 2 views

## X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase ) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to

Mutation pattern in the Bruton's tyrosin

Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia

✍ Igor Vorřechovský; Liping Luo; Jens M. Hertz; Stig S. Frøland; Timo Klemola; Mau 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 233 KB 👁 2 views

Mutation pattern was characterized in the Bruton's tyrosine kinase gene (BTK) in 26 patients with X-linked agammaglobulinemia, the first described immunoglobulin deficiency, and was related to BTK expression. A total of 24 different mutations were identified. Most BTK mutations were found to result