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

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes. Research Abstract Details 

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Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes. Abstract Text:

Anna ,C I Edvard Smith,A Charlotta Asplund,Jan Hadac,Ales Janda, Zeman,Hana ,Lenka ,Lenka ,Sirje Velbri,Carla Koehler,Karin Roesch,Kathleen E Sullivan,Takeshi Futatani,Hans D Ochs,Anna ,C I Edvard Smith,A Charlotta Asplund,Jan Hadac,Ales Janda, Zeman,Hana ,Lenka ,Lenka ,Sirje Velbri,Carla Koehler,Karin Roesch,Kathleen E Sullivan,Takeshi Futatani,Hans D Ochs,

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.

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes. Publishing Authors By Initials

A ,CI Smith,AC Asplund,J Hadac,A Janda,J Zeman,H ,L ,L ,S Velbri,C Koehler,K Roesch,KE Sullivan,T Futatani,HD Ochs,A ,CI Smith,AC Asplund,J Hadac,A Janda,J Zeman,H ,L ,L ,S Velbri,C Koehler,K Roesch,KE Sullivan,T Futatani,HD Ochs,

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Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Journal of clinical immunology

VOLUME: 27

Page Numbers: 640-6

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ISSN: 0271-9142

DAY: 12

MONTH: 09

YEAR: 2007

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

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LANGUAGE: eng

NlmUniqueID: 8102137

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Grant and Affiliation Information for Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes.

AFFILIATION: Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic, anna.sediva@fnmotol.cz.

Country: United States

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MEDLINETA: J Clin Immunol

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