Document Detail

Mutations in btk in patients with presumed X-linked agammaglobulinemia.
MedLine Citation:
PMID:  9545398     Owner:  NLM     Status:  MEDLINE    
In 1993, two groups showed that X-linked agammaglobulinemia (XLA) was due to mutations in a tyrosine kinase now called Btk. Most laboratories have been able to detect mutations in Btk in 80%-90% of males with presumed XLA. The remaining patients may have mutations in Btk that are difficult to identify, or they may have defects that are phenotypically similar to XLA but genotypically different. We analyzed 101 families in which affected males were diagnosed as having XLA. Mutations in Btk were identified in 38 of 40 families with more than one affected family member and in 56 of 61 families with sporadic disease. Excluding the patients in whom the marked decrease in B cell numbers characteristic of XLA could not be confirmed by immunofluorescence studies, mutations in Btk were identified in 43 of 46 patients with presumed sporadic XLA. Two of the three remaining patients had defects in other genes required for normal B cell development, and the third patient was unlikely to have XLA, on the basis of results of extensive Btk analysis. Our techniques were unable to identify a mutation in Btk in one male with both a family history and laboratory findings suggestive of XLA. DNA samples from 41 of 49 of the mothers of males with sporadic disease and proven mutations in Btk were positive for the mutation found in their son. In the other 8 families, the mutation appeared to arise in the maternal germ line. In 20 families, haplotype analysis showed that the new mutation originated in the maternal grandfather or great-grandfather. These studies indicate that 90%-95% of males with presumed XLA have mutations in Btk. The other patients are likely to have defects in other genes.
M E Conley; D Mathias; J Treadaway; Y Minegishi; J Rohrer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  62     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1998 May 
Date Detail:
Created Date:  1998-05-21     Completed Date:  1998-05-21     Revised Date:  2011-11-02    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1034-43     Citation Subset:  IM    
Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA.
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MeSH Terms
Agammaglobulinemia / enzymology*,  genetics*
Genetic Testing
Polymorphism, Single-Stranded Conformational
Protein-Tyrosine Kinases / genetics*
X Chromosome*
Grant Support
Reg. No./Substance:
EC tyrosine kinase; EC Kinases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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