Ontology highlight
ABSTRACT:
SUBMITTER: Au PYB
PROVIDER: S-EPMC4589226 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Au P Y Billie PYB You Jing J Caluseriu Oana O Schwartzentruber Jeremy J Majewski Jacek J Bernier Francois P FP Ferguson Marcia M Valle David D Parboosingh Jillian S JS Sobreira Nara N Innes A Micheil AM Kline Antonie D AD
Human mutation 20150806 10
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, GeneM ...[more]