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Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X‐linked agammaglobulinemia (XLA)
Author(s) -
Velickovic Marija,
Prasad Madhuri L.,
Weston Susan A.,
Benson Elizabeth M.
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9228
Subject(s) - x linked agammaglobulinemia , bruton's tyrosine kinase , missense mutation , biology , mutation , genetic counseling , genetics , gene , immunodeficiency , tyrosine kinase , mutation testing , phenotype , prenatal diagnosis , microbiology and biotechnology , pregnancy , immune system , fetus , signal transduction
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.862C>T (p.R288W), c.904G>A (p.R302G), c.1535T>C (p.L512P), c.700C>T (p.Q234X), while nine novel mutations were identified: four missense c.82C>A (p.R28S), c.494G>A (p.C165Y), c.464G>A (p.C155Y), c.1750G>A (p.G584E), one deletion c.142_144delAGAAGA (p.R48_G50del), and four splice site mutations c.241‐2A>G, c.839+4A>G, c.1350‐2A>G, c.1566+1G>A. Carrier analysis was performed in 10 mothers and 11 female relatives. The results of this study further support the notion that molecular genetic testing represents an important tool for definitive and early diagnosis of XLA and may allow accurate carrier status and prenatal diagnosis. © 2004 Wiley‐Liss, Inc.