Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

T Arai, M Zhao, H Kanegane, Menno van Zelm, T Futatani, M Yamada, T Ariga, HD Ochs, T Miyawaki, T Oh-ishi

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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-Tranebjaerg 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. Journal of Human Genetics (2011) 56, 577-582; doi:10.1038/jhg.2011.61; published online 14 July 2011
Original languageUndefined/Unknown
Pages (from-to)577-582
Number of pages6
JournalJournal of Human Genetics
Issue number8
Publication statusPublished - 2011

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  • EMC MM-02-72-01

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