Advanced

Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.

Okoh, Michael P; Kainulainen, Leena; Heiskanen, Kaarina; Isa, M Nizam; Varming, Kim; Ruuskanen, Olli and Vihinen, Mauno LU (2002) In Human Mutation 20(6). p.480-481
Abstract
Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype various mutations including six novel mutations (g.64512_64513insC, c.108_109insG, c.1700_1701insACTACAG, g.51375_51376GC>TG, g.63991_63992insGGTAGAAAAAA, c.1956_1957insCA) and a previously known silent polymorphism (c.2031C>T). Except for two mutations, the alterations affect the kinase domain. There was exceptionally high proportion of insertions in the cohort. Frameshift insertion was found altogether in five patients, three of which are... (More)
Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype various mutations including six novel mutations (g.64512_64513insC, c.108_109insG, c.1700_1701insACTACAG, g.51375_51376GC>TG, g.63991_63992insGGTAGAAAAAA, c.1956_1957insCA) and a previously known silent polymorphism (c.2031C>T). Except for two mutations, the alterations affect the kinase domain. There was exceptionally high proportion of insertions in the cohort. Frameshift insertion was found altogether in five patients, three of which are on introns, one in upstream region, and one in exon 18 leading to frameshift mutation and truncation of the protein. In the intron 4 there is a substitution of two bases. Carrier detection was performed in four families. In one case the mutation was found to be de novo. (Less)
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Agammaglobulinemia: enzymology, Agammaglobulinemia: genetics, DNA Mutational Analysis: methods, Protein-Tyrosine Kinases: genetics, X Chromosome: genetics
in
Human Mutation
volume
20
issue
6
pages
480 - 481
publisher
John Wiley & Sons
external identifiers
  • pmid:12442285
  • scopus:0036884261
ISSN
1059-7794
DOI
10.1002/humu.9094
language
English
LU publication?
no
id
0af9729a-a098-4ed7-a5d0-a5ff184dee7e (old id 3635577)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/12442285?dopt=Abstract
date added to LUP
2013-06-12 15:57:11
date last changed
2017-01-01 07:36:53
@article{0af9729a-a098-4ed7-a5d0-a5ff184dee7e,
  abstract     = {Mutations in the gene encoding Bruton tyrosine kinase (BTK) result in X-linked agammaglobulinemia (XLA), an immunodeficiency of antibody defect. By using base excision sequence scanning method (BESS) followed by direct sequencing we found in seven unrelated families with a classical XLA phenotype various mutations including six novel mutations (g.64512_64513insC, c.108_109insG, c.1700_1701insACTACAG, g.51375_51376GC>TG, g.63991_63992insGGTAGAAAAAA, c.1956_1957insCA) and a previously known silent polymorphism (c.2031C>T). Except for two mutations, the alterations affect the kinase domain. There was exceptionally high proportion of insertions in the cohort. Frameshift insertion was found altogether in five patients, three of which are on introns, one in upstream region, and one in exon 18 leading to frameshift mutation and truncation of the protein. In the intron 4 there is a substitution of two bases. Carrier detection was performed in four families. In one case the mutation was found to be de novo.},
  author       = {Okoh, Michael P and Kainulainen, Leena and Heiskanen, Kaarina and Isa, M Nizam and Varming, Kim and Ruuskanen, Olli and Vihinen, Mauno},
  issn         = {1059-7794},
  keyword      = {Agammaglobulinemia: enzymology,Agammaglobulinemia: genetics,DNA Mutational Analysis: methods,Protein-Tyrosine Kinases: genetics,X Chromosome: genetics},
  language     = {eng},
  number       = {6},
  pages        = {480--481},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.},
  url          = {http://dx.doi.org/10.1002/humu.9094},
  volume       = {20},
  year         = {2002},
}