Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes |
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| Authors: | Anna Šedivá C. I. Edvard Smith A. Charlotta Asplund Jan Hadač Aleš Janda Jiří Zeman Hana Hansíková Lenka Dvořáková Lenka Mrázová Sirje Velbri Carla Koehler Karin Roesch Kathleen E. Sullivan Takeshi Futatani Hans D. Ochs |
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| Affiliation: | (1) Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06 Prague 5, Czech Republic;(2) Clinical Research Center, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, Sweden;(3) Department of Neurology, Thomayer Hospital, Prague, Czech Republic;(4) Centre of Applied Genomics, First Medical Faculty, Charles University, Prague, Czech Republic;(5) Tallinn Children’s Hospital, Tallinn, Estonia;(6) Department of Chemistry & Biochemistry, University of California, Los Angeles, USA;(7) Department of Pediatrics, University of Pennsylvania, Philadelphia, USA;(8) Department of Pediatrics School of Medicine, University of Washington, Seattle, USA;(9) Department of Pediatrics, Toyama Medical and Pharmaceutical University, Toyama, Japan |
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| Abstract: | X-linked agammaglobulinemia (XLA) is characterized by low levels of B-lymphocytes with early-onset, recurrent, microbial infections occasionally causing neurological symptoms. We observed an atypical clinical course of XLA, complicated since early childhood with neurological impairment, progressive sensorineural deafness, and dystonia in six boys of four unrelated families. The neurologic symptoms suggested the diagnosis of Mohr–Tranebjaerg syndrome, caused by mutations in the TIMM8A gene, previously known as DDP1, and located centromerically of BTK. Deafness dystonia peptide (DDP1) participates in neurological development and is a part of the mitochondrial protein import pathway. Mutation analysis of the BTK gene revealed gross deletions of different lengths in all patients, in one case extending approximately 196 kb, including the genes TIMM8A, TAF7L, and DRP2. The most prominent clinical findings of this contiguous deletion syndrome are the combination of immunodeficiency and sensorineural deafness, which were present in all affected boys. The severity of symptoms, however, did not correlate with the extent of the deletion. |
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| Keywords: | X-linked agammaglobulinemia (XLA) Bruton tyrosine kinase (BTK) Mohr– Tranebjaerg syndrome immunodeficiency sensorineural deafness |
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