12q14 microdeletion associated with HMGA2 gene disruption and growth restriction

Authors

  • Fadel Alyaqoub,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
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  • Robert E. Pyatt,

    Corresponding author
    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University, Columbus, Ohio
    • Assistant Director, Cytogenetics/Molecular Genetics, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205.
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  • Andrea Bailes,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
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  • Amanda Brock,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
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  • Carol Deeg,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
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  • Aimee McKinney,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
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  • Caroline Astbury,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University, Columbus, Ohio
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  • Shalini Reshmi,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University, Columbus, Ohio
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  • Kate P. Shane,

    1. Department of Internal Medicine, Clinical Cancer Genetics, The Ohio State University, Columbus, Ohio
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  • Devon Lamb Thrush,

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pediatrics, The Ohio State University, Columbus, Ohio
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  • Annemarie Sommer,

    1. Department of Pediatrics, The Ohio State University, Columbus, Ohio
    2. Department of Human and Molecular Genetics, Nationwide Children's Hospital, Columbus, Ohio
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  • Julie M. Gastier-Foster

    1. Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio
    2. Department of Pathology, The Ohio State University, Columbus, Ohio
    3. Department of Pediatrics, The Ohio State University, Columbus, Ohio
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  • How to Cite this Article: Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. 2012. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction. Am J Med Genet Part A 158A: 2925–2930.

  • Fadel Alyaqoub and Robert E. Pyatt contributed equally to this work.

Abstract

The 12q14 microdeletion syndrome is a rare condition that has previously been characterized by pre- and postnatal growth restriction, proportionate short stature, failure to thrive, developmental delay, and osteopoikilosis. Previously reported microdeletions within this region have ranged in size from 1.83 to 10.12 Mb with a proposed 2.61 Mb smallest region of overlap containing the LEMD3, HMGA2, and GRIP1 genes. Here, we report on the identification of a 12q14 microdeletion in a female child presenting with proportionate short stature, failure to thrive, and speech delay. The genomic loss (minimum size 4.17 Mb, maximum size 4.21 Mb) contained 25 RefSeq genes including IRAK3, GRIP1, and the 3′ portion of the HMGA2 gene. This is the first partial deletion of HMGA2 associated with the 12q14 microdeletion syndrome. This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth. © 2012 Wiley Periodicals, Inc.

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