GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

Care for Rare Canada Consortium

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1009-1014
Number of pages6
JournalHuman mutation
Volume36
Issue number10
DOIs
StatePublished - Oct 1 2015

Keywords

  • GeneMatcher
  • HNRNPK
  • Matchmaker exchange
  • Reverse phenotyping
  • WES

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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