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01.11.2007

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

verfasst von: 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

Erschienen in: Journal of Clinical Immunology | Ausgabe 6/2007

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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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Titel: Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes
verfasst von: 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
Publikationsdatum: 01.11.2007
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 6/2007
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-007-9123-x

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