A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. | Read by QxMD (original) (raw)
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Gene 2015 April 15
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.
Full text links
We have located links that may give you full text access.
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-
2024
by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our
and
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app