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Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

Nature Genetics volume 10, pages 269–278 (1995)Cite this article

Abstract

DiGeorge syndrome (DGS), a developmental defect, is characterized by cardiac defects and aplasia or hypoplasia of the thymus and parathyroid glands. DGS has been associated with visible chromosomal abnormalities and microdeletions of 22q11, but only one balanced translocation — ADU/VDU t(2;22)(q14;q11.21). We now report the cloning of this translocation, the identification of a gene disrupted by the rearrangement and the analysis of other transcripts in its vicinity. Transcripts were identified by direct screening of cDNA libraries, exon amplification, cDNA selection and genomic sequence analysis using GRAIL. Disruption of a gene in 22q11.2 by the breakpoint and haploinsufficiency of this locus in deleted DGS patients make it a strong candidate for the major features associated with this disorder.

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Authors and Affiliations

  1. The Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

    Marcia L. Budarf, Joelle Collins, Weilong Gong, Bea Sellinger, Dominique Michaud, Deborah A. Driscoll & Beverly S. Emanuel

  2. The Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    Marcia L. Budarf & Beverly S. Emanuel

  3. The Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    Marcia L. Budarf

  4. The Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

    L. Charles Bailey & Deborah A. Driscoll

  5. The Department of Chemistry, University of Oklahoma, Norman, Oklahoma, USA

    Bruce Roe & Zhili Wang

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Budarf, M., Collins, J., Gong, W. et al. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10, 269–278 (1995). https://doi.org/10.1038/ng0795-269

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