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Molecular analysis of Bruton’s tyrosine kinase gene in Spain

✍ Scribed by Ma Cruz García Rodríguez; Eduardo López Granados; Antonio Ferreira Cerdán; Gumersindo Fontán Casariego

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
36 KB
Volume
18
Category
Article
ISSN
1059-7794

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✦ Synopsis

Mutations in Bruton´s tyrosine kinase (BTK) gene result in X linked agammaglobulinemia (XLA). Using Single Strand Conformation Polymorphism (SSCP) followed by direct sequencing 21 mutations were found in 27 patients with an XLA phenotype from 21 unrelated families. We identified 13 novel and 8 known mutations: seven missense (R288W, R544G, P566S, K430E; K374N, L512P, R544S), 5 nonsense (Q196X, Y361X, L249X, Q612X, Q466X), 2 deletions of one nucleotide (A207fsX216, Q612fsX648), 2 deletion-insertions (V219fsX227, K218fsX228), one insertion of two nucleotides (S572fsX587) and 4 point mutations in donor/acceptor splice sites (g.IVS1+1G> > C, g.IVS6+5G> > A, g.IVS10+1G> > T, g.IVS13-1GG> > CT). Carrier detection was performed in 18 mothers. Only in one case the mutation was found to be de novo. Additionally, BTK mutations were not found in four patients without family history, but with XLA-compatible phenotype.

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