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CALL gene is haploinsufficient in a 3p-syndrome patient

  1. Author:
    Angeloni, D.
    Lindor, N. M.
    Pack, S.
    Latif, F.
    Wei, M. H.
    Lerman, M. I.

  2. Author Address

    Angeloni D NCI, Frederick Canc Res & Dev Ctr, Immunobiol Lab Bldg 560,Room 12-68 Frederick, MD 21702 USA NCI, Frederick Canc Res & Dev Ctr, Immunobiol Lab Frederick, MD 21702 USA Mayo Clin, Dept Med Genet Rochester, MN USA NCI, Pathol Lab, NIH Bethesda, MD 20892 USA
    1. Year: 1999
  2. Journal: American Journal of Medical Genetics
    1. 86
    2. 5
    3. Pages: 482-485
  4. Type of Article: Article
  1. Abstract:

    The 3p- syndrome results from deletion of a terminal, segment of the short arm of one chromosome 3 (3p25-->pter), and is characterized by multiple congenital anomalies and mental retardation. Due to its variable expression, it is assumed this disorder is a contiguous gene syndrome with an undefined number of genes contributing to the phenotype, In an effort to discover genes contributing to mental deflects in 3p- syndrome, we determined whether the CALL gene, mapped to 3p26.1 and coding far a neural recognition molecule, is deleted in a boy with this disorder. We found that the break in this patient is distal to the VHL gene, removing D3S18 and the CALL loci, The deletion of one copy of the CALL gene might be responsible for mental defects in patients with 3p- syndrome. Published 1999 Wiley-Liss, Inc.(dagger) [References: 17]

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