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A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient.

Authors
Type
Published Article
Journal
Gene
0378-1119
Publisher
Elsevier
Publication Date
Volume
560
Issue
2
Pages
245–248
Identifiers
DOI: 10.1016/j.gene.2015.02.019
PMID: 25680287
Source
Medline
Keywords
License
Unknown

Abstract

Bruton's tyrosine kinase (BTK), encoded by the BTK gene, is a cytoplasmic protein critical in B cell development. Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA), a primary immunodeficiency with characteristically low or absent B cells and antibodies. This report describes a five year-old boy who presented with otitis externa, arthritis, reduced immunoglobulins and no B cells. Flow cytometry showed undetectable monocyte BTK expression. Sequencing revealed a novel mutation at exon 13 of the BTK gene which created a de novo splice site with a proximal 5 nucleotide loss resulting in a truncated BTK protein. The patient still suffered from ear infection despite intravenous immunoglobulin replacement therapy. In this study, mosaicism was seen only in the mother's genomic DNA. These results suggest that a combination of flow cytometry and BTK gene analysis is important for XLA diagnosis and carrier screening.

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