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:
https://lup.lub.lu.se/record/3635577
- author
- Okoh, Michael P
; Kainulainen, Leena
; Heiskanen, Kaarina
; Isa, M Nizam
; Varming, Kim
; Ruuskanen, Olli
and Vihinen, Mauno
LU
- publishing date
- 2002
- 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 Inc.
- 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
- 2016-04-04 08:30:09
- date last changed
- 2022-01-29 03:32:09
@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}},
keywords = {{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 Inc.}},
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}},
doi = {{10.1002/humu.9094}},
volume = {{20}},
year = {{2002}},
}