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

Takashi Arai, Meina Zhao, Hirokazu Kanegane, Menno C. Van Zelm, Takeshi Futatani, Masafumi Yamada, Tadashi Ariga, Hans D. Ochs, Toshio Miyawaki, Tsutomu Oh-Ishi

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11 Citations (Scopus)


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 languageEnglish
Pages (from-to)577-582
Number of pages6
JournalJournal of Human Genetics
Issue number8
Publication statusPublished - Aug 2011
Externally publishedYes


  • Alu
  • BTK
  • Mohr-Tranebjærg syndrome
  • TIMM8A
  • X-linked agammaglobulinemia

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