Premium
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X‐linked agammaglobulinaemia by long PCR‐direct sequencing
Author(s) -
Chan KW.,
Chen T.,
Jiang L.,
Fok S. FS.,
Lee TL.,
Lee BW.,
Yang X.,
Lau YL.
Publication year - 2006
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2006.00598.x
Subject(s) - bruton's tyrosine kinase , genetic counseling , hypogammaglobulinemia , gene , x linked agammaglobulinemia , prenatal diagnosis , genetics , phenotype , genotype , polymerase chain reaction , biology , mutation , tyrosine kinase , disease , immunology , medicine , antibody , pathology , signal transduction , pregnancy , fetus
Summary X‐linked agammaglobulinaemia (XLA) is an immunodeficiency caused by Bruton tyrosine kinase (BTK) gene mutations. The disease is characterized by recurrent bacterial infections and profound hypogammaglobulinemia with marked reduction or lack of mature B‐cells in the peripheral blood. Molecular characterization of BTK gene provides an opportunity for definitive diagnosis of XLA patients, especially for those with atypical phenotype resulting in a milder or late‐onset form of the disease. The diagnosis allows accurate carrier detection with subsequent genetic counselling and prenatal diagnosis. In this study, long polymerase chain reaction (PCR)‐direct sequencing analysis of the BTK gene in 12 unrelated Chinese XLA patients had been performed. Eight recurrent mutations and four novel mutations were identified. This is the first report of Chinese cases from three different East Asia regions together, including Hong Kong, Singapore and mainland China. Future clinical and genetic information from the undiagnosed Chinese XLA patients may provide insight into the genotype–phenotype correlations of BTK gene.