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. Issue 10 (6th August 2015)

• Record Type: Journal Article
• Authors: Au, P. Y. Billie; You, Jing; Caluseriu, Oana; Schwartzentruber, Jeremy; Majewski, Jacek; Bernier, Francois P.; Ferguson, Marcia; Valle, David; Parboosingh, Jillian S.; Sobreira, Nara; Innes, A. Micheil; Kline, Antonie D.
• Is Part Of: Human mutation. Volume 36:Issue 10(2015:Oct.)
• Page Start: 1009
• Page End: 1014
• Publication Date: 2015-08-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22837
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22837-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report a new syndrome due to loss of function variants in the heterogeneous nuclear ribonucleoprotein K gene (<italic>HNRNPK</italic>, OMIM *600712). We describe two probands, both of whom 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, and highlights the newer paradigm of "reverse phenotyping." <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2n1bh1p6" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>