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- Title
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
- Authors
Arai, Takashi; Zhao, Meina; Kanegane, Hirokazu; van Zelm, Menno C; Futatani, Takeshi; Yamada, Masafumi; Ariga, Tadashi; Ochs, Hans D; Miyawaki, Toshio; Oh-ishi, Tsutomu
- 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.
- Subjects
CHROMOSOME abnormalities; HUMAN genetics; AGAMMAGLOBULINEMIA; GENETIC mutation; GENETIC disorders; DEAFNESS; IMMUNODEFICIENCY; PROTEIN-tyrosine kinases; MOLECULAR biology; BRUTON tyrosine kinase
- Publication
Journal of Human Genetics, 2011, Vol 56, Issue 8, p577
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1038/jhg.2011.61