Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 11, Pages 2822-2825Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37275
Keywords
CDC42; thrombocytopenia; developmental delay; Wiskott-Aldrich syndrome; cytoskeleton; exome sequencing
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Funding
- Ministry of Health, Labour and Welfare, Japan
- Japan Agency for Medical Research and Development
- Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatric Health
- Keio University Research Grants for Life Science and Medicine
- Japan Foundation for Pediatric Research [14-002]
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The combinatory phenotype of thrombocytopenia and developmental delay has been described for two genetic conditions: a chromosome 11q deletion that is referred to as Jacobsen syndrome, and a 21q22 microdeletion syndrome. Herein, we report a young girl who presented with persistent macrothrombocytopenia and a developmental delay. Whole exome sequencing revealed a de novo amino acid substitution in CDC42, a critical regulator of the cytoskeleton. Our observation recapitulates observations in mice lacking Cdc42. We suggest that this CDC42 mutation may represent yet another mechanism leading to the combinatory phenotype of persistent macrothrombocytopenia and developmental delay. (c) 2015 Wiley Periodicals, Inc.
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