Journal
HUMAN MUTATION
Volume 36, Issue 10, Pages 1009-1014Publisher
WILEY-HINDAWI
DOI: 10.1002/humu.22837
Keywords
HNRNPK; reverse phenotyping; GeneMatcher; matchmaker exchange; WES
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Funding
- Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Ontario Research Fund
- Genome Quebec
- Children's Hospital of Eastern Ontario Research Foundation
- National Human Genome Research Institute (NIH) [1U54HG006542]
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We report a new syndrome due to loss-of-function variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK). We describe two probands: one with a de novo frameshift (NM_002140.3: c.953+1dup), and the other with a de novo splice donor site variant (NM_002140.3: c.257G>A). Both probands have intellectual disability, a shared unique craniofacial phenotype, and connective tissue and skeletal abnormalities. The identification of this syndrome was made possible by a new online tool, GeneMatcher, which facilitates connections between clinicians and researchers based on shared interest in candidate genes. This report demonstrates that new Web-based approaches can be effective in helping investigators solve exome sequencing projects, and also highlights the newer paradigm of reverse phenotyping, where characterization of syndromic features follows the identification of genetic variants. (C) 2015 Wiley Periodicals, Inc.
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