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 (
Original language | English |
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Pages (from-to) | 577-582 |
Number of pages | 6 |
Journal | Journal of Human Genetics |
Volume | 56 |
Issue number | 8 |
DOIs | |
Publication status | Published - Aug 2011 |
Externally published | Yes |
Keywords
- Alu
- BTK
- Mohr-Tranebjærg syndrome
- TIMM8A
- X-linked agammaglobulinemia