Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Authors

  • Susan Zeesman,

    1. Department of Pediatrics, McMaster University, Hamilton, Canada
    2. Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada
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  • Małgorzata J.M. Nowaczyk,

    1. Department of Pediatrics, McMaster University, Hamilton, Canada
    2. Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada
    3. Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada
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  • Ikuko Teshima,

    1. Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    2. Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
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  • Wendy Roberts,

    1. Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
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  • Janis Oram Cardy,

    1. Department of Medical Imaging, University of Toronto and The Hospital for Sick Children, Toronto, Canada
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  • Jessica Brian,

    1. Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
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  • Lili Senman,

    1. Department of Pediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Canada
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  • Lars Feuk,

    1. Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
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  • Lucy R. Osborne,

    1. Department of Medicine, University of Toronto, Toronto, Canada
    2. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada
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  • Stephen W. Scherer

    Corresponding author
    1. Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    2. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada
    • Program in Genetics and Genomic Biology, Room 9107, 555 University Avenue, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada.
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Abstract

We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics. © 2006 Wiley-Liss, Inc.

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