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

✍ Scribed by Mauno Vihinen; Sau-Ping Kwan; Tracy Lester; Hans D. Ochs; Igor Resnick; Jouni Väliaho; Mary Ellen Conley; C.I. Edvard Smith

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
237 KB
Volume
13
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme. The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations are provided in the database. BTKbase is available at http://www.uta.fi/imt/bioinfo. Hum Mutat 13:280-285, 1999.

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