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Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
- Source :
- Journal of Human Genetics; Aug2011, Vol. 56 Issue 8, p577-582, 6p, 1 Color Photograph, 3 Diagrams, 1 Chart
- Publication Year :
- 2011
-
Abstract
- Patients with X-linked agammaglobulinemia (XLA) can present with sensorineural deafness. This can result from a gross deletion that not only involved the Bruton's tyrosine kinase (BTK) gene, but also TIMM8A, mutations in which underlie the Mohr-Tranebjærg syndrome (MTS). We analyzed the genomic break points observed in three XLA-MTS patients and compared these with deletions break points from XLA patients. Patient 1 had a 63-kb deletion with break points in intron 15 of BTK and 4 kb upstream of TAF7L. Patients 2 and 3 had 149.7 and 196 kb deletions comprising BTK, TIMM8A, TAF7L and DRP2. The break points in patients 1 and 3 were located in Alu and endogenous retrovirus (ERV) repeats, whereas the break points in patient 2 did not show involvement of transposable elements. Comparison of gross deletion sizes and involvement of transposable elements in XLA and XLA-MTS patients from the literature showed preferential involvement of Alu elements in smaller deletions (<10 kb). These results show further insights into the molecular mechanisms underlying gross deletions in patients with primary immunodeficiency. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14345161
- Volume :
- 56
- Issue :
- 8
- Database :
- Complementary Index
- Journal :
- Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 64903504
- Full Text :
- https://doi.org/10.1038/jhg.2011.61