ArticleJournal of medical genetics2006
Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Genome-wide single nucleotide polymorphism (SNP) data reveal potential candidate genes for litter traits in a Yorkshire pig population.Archives animal breeding · 2023Article
- NKAIN2 functions as a novel tumor suppressor in prostate cancer.Oncotarget · 2016Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Pure interstitial dup(6)(q22.31q22.31) - a case report.Italian journal of pediatrics · 2015Article
- The structure and function of NKAIN2-a candidate tumor suppressor.International journal of clinical and experimental medicine · 2015Review
- 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.Molecular cytogenetics · 2015Article
- Common genetic variants on 6q24 associated with exceptional episodic memory performance in the elderly.JAMA neurology · 2014Article
- Late breaking chromosomes.Molecular syndromology · 2014Article
- Article
- Rare SERINC2 variants are specific for alcohol dependence in individuals of European descent.Pharmacogenetics and genomics · 2013Article
- Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.European journal of human genetics : EJHG · 2013Article
- Article
- Chromosome rearrangement associated inactivation of tumour suppressor genes in prostate cancer.American journal of cancer research · 2011Article
- Balanced translocations in mental retardation.Human genetics · 2009Review
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.Human genetics · 2007Article
- Evidence for large inversion polymorphisms in the human genome from HapMap data.Genome research · 2007Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A boy with developmental delay, particularly of speech, a distinct face, antineutrophil cytoplasmic antibodies, and recurrent infections was found to have an apparently balanced de novo t(1;6)(q32.3;q22.3) translocation. Fluorescent in situ hybridisation with BAC/PAC clones and long range polymerase chain reaction products assessed in the human genome sequence localised the chromosome 1 breakpoint to a 9.8 kb segment within a hypothetical gene, LOC388735, and the chromosome 6 breakpoint to a 12.8 kb segment in intron 4 of the T-cell lymphoma breakpoint-associated target 1 (TCBA1) gene. Disruption and/or formation of TCBA1 fusion genes in T cell lymphoma and leukaemia cell lines suggests a role for this gene in tumorigenesis. The isolated mouse Tcba1 gene shows 91% amino acid sequence similarity with human TCBA1. It is expressed in fetal and adult brain and with lower levels in liver and testis. The human gene has been reported to be expressed exclusively in brain and thymus. Reduced TCBA1 expression in brain and thymus may explain at least some of the symptoms in this patient. It is concluded that germline alterations of the TCBA1 gene are associated with developmental delay and typical physical features.
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Registered trials
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