𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Igor Vorřechovský; Liping Luo; Jens M. Hertz; Stig S. Frøland; Timo Klemola; Maurilia Fiorini; Isabella Quinti; Roberto Paganelli; Hulya Ozsahin; Lennart Hammarström; A. David B. Webster; C. I. Edvard Smith

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
233 KB
Volume
9
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

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 in premature termination of the translation product. Mutations were detected in most BTK exons with a predominance of frameshift and nonsense mutations in the 5' end of the gene and missense mutations in its 3' part, corresponding to the catalytic domain of the enzyme. Nonsense and frameshift mutations were associated with diminished levels of BTK mRNA expression, except for a frameshift mutation in exon 17 and two nonsense mutations in exon 2, indicating that these cases are not confined to penultimate exons. One amino acid substitution (R28H) was found in the pleckstrin homology domain's residue, which is mutated in mice bearing the X-linked immunodeficiency phenotype; another substitution (R307G) was identified in the src homology domain 2. All remaining amino acid substitutions were found in the catalytic domain of Btk.

📜 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 👁 1 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

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 👁 1 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

Identification of nine novel mutations i
Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients
✍ Paola Orlandi; Kostas Ritis; Viviana Moschese; Federica Angelini; Konstantinos A 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

## Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA p

Detection of a novel mutation in the SRC
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia
✍ Schuster, Volker; Seidenspinner, Silvia; Kreth, Hans Wolfgang 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 1 views

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac