Document Detail

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
MedLine Citation:
PMID:  17851739     Owner:  NLM     Status:  MEDLINE    
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.
Anna Sedivá; C I Edvard Smith; A Charlotta Asplund; Jan Hadac; Ales Janda; Jirí Zeman; Hana Hansíková; Lenka Dvoráková; Lenka Mrázová; Sirje Velbri; Carla Koehler; Karin Roesch; Kathleen E Sullivan; Takeshi Futatani; Hans D Ochs
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2007-09-12
Journal Detail:
Title:  Journal of clinical immunology     Volume:  27     ISSN:  0271-9142     ISO Abbreviation:  J. Clin. Immunol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-11-13     Completed Date:  2008-02-26     Revised Date:  2011-11-02    
Medline Journal Info:
Nlm Unique ID:  8102137     Medline TA:  J Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  640-6     Citation Subset:  IM    
Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic.
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MeSH Terms
Agammaglobulinemia / genetics*
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, X / genetics*
Cohort Studies
Diagnosis, Differential
Genetic Diseases, X-Linked / genetics
Intercellular Signaling Peptides and Proteins / genetics*
Membrane Transport Proteins / genetics*
Nerve Tissue Proteins / genetics*
Protein-Tyrosine Kinases / genetics*
RNA Polymerase II / genetics
TATA-Binding Protein Associated Factors / genetics*
Transcription Factor TFIID / genetics*
Grant Support
Reg. No./Substance:
0/Intercellular Signaling Peptides and Proteins; 0/Membrane Transport Proteins; 0/Nerve Tissue Proteins; 0/TAF7 protein, human; 0/TATA-Binding Protein Associated Factors; 0/TIMM8A protein, human; 0/Transcription Factor TFIID; 0/collapsin response mediator protein-2; EC tyrosine kinase; EC Kinases; EC 2.7.7.-/RNA Polymerase II

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