SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay

Authors

  • Yu An,

    1. Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China
    2. Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts
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  • Sami S. Amr,

    1. Harvard Medical School, Boston, Massachusetts
    2. Brigham and Woman's Hospital, Boston, Massachusetts
    3. Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, Massachusetts
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  • Alcy Torres,

    1. Harvard Medical School, Boston, Massachusetts
    2. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts
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  • Laura Weissman,

    1. Harvard Medical School, Boston, Massachusetts
    2. Developmental Medicine Center, Boston Children's Hospital, Massachusetts
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  • Peter Raffalli,

    1. Harvard Medical School, Boston, Massachusetts
    2. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts
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  • Gerald Cox,

    1. Harvard Medical School, Boston, Massachusetts
    2. Genetics Program, Boston Children's Hospital, Boston, Massachusetts
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  • Xiaoming Sheng,

    1. Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts
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  • Va Lip,

    1. Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts
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  • Weimin Bi,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
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  • Ankita Patel,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
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  • Pawel Stankiewicz,

    1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
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  • Bai-Lin Wu,

    1. Institutes of Biomedical Sciences, Children's Hospital and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China
    2. Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts
    3. Harvard Medical School, Boston, Massachusetts
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  • Yiping Shen

    Corresponding author
    1. Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts
    2. Harvard Medical School, Boston, Massachusetts
    3. Shanghai Children's Medical Center, Jiaotong University School of Medicine, Shanghai, China
    • Correspondence to:

      Yiping Shen, Ph.D., FACMG, Shanghai Children's Medical Center, 1678 Dong Fang Road Shanghai, China 200127.

      E-mail: yiping.shen@childrens.harvard.edu

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  • Yu An and Sami S. Amr contributed equally to this study.
  • No conflict of interest for all authors.

Abstract

20p13 telomeric/subtelomeric deletions are clinically significant but are currently under-investigated. So far only five molecularly delineated cases have been reported in literature and no candidate genes have been sufficiently implicated. Here, we present six new deletion cases identified by chromosomal microarray analysis (CMA). We also review 32 cases combined from literature and databases. We found that most 20p13 deletion patients exhibit significant developmental delay. Dysmorphic features are common but a consistent pattern was not recognized. Reduced cognitive ability was frequent. Based on pathogenic deletions delineated in this study, we mapped the smallest overlapping region and identified two nervous system expressing genes (SOX12 and NRSN2) as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. © 2013 Wiley Periodicals, Inc.

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