Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
| Autor: | Hana Hansikova, Carla M. Koehler, Jan Hadač, Anna Sediva, Jiří Zeman, Hans D. Ochs, Takeshi Futatani, Lenka Mrázová, Karin Roesch, Lenka Dvořáková, C. I. Edvard Smith, Sirje Velbri, Ales Janda, A. Charlotta Asplund, Kathleen E. Sullivan |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Adolescent Immunology Nerve Tissue Proteins Biology Cohort Studies Diagnosis Differential Agammaglobulinemia hemic and lymphatic diseases Mitochondrial Precursor Protein Import Complex Proteins medicine Agammaglobulinaemia Tyrosine Kinase Immunology and Allergy Bruton's tyrosine kinase Humans Deletion syndrome Child Gene X chromosome Immunodeficiency Genetics Dystonia Chromosomes Human X TATA-Binding Protein Associated Factors Mohr–Tranebjærg syndrome Chromosome Mapping Infant Membrane Transport Proteins Genetic Diseases X-Linked Protein-Tyrosine Kinases medicine.disease Mutation testing biology.protein Intercellular Signaling Peptides and Proteins Transcription Factor TFIID RNA Polymerase II Chromosome Deletion |
| Zdroj: | Journal of clinical immunology. 27(6) |
| ISSN: | 0271-9142 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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