Abby is a 6-year-old girl with a severe yet undiagnosed disease. Abby and both parents have had their genomes sequenced. They need your help.
#17 by Colby MD
Fri Aug 26, 2016 8:04 pm
A journal article in Cell was published on August 18, 2016 that includes the pathogenic variant detected in Abbie's HNRNPH2. Thank you, Dr. Chung, for your outstanding work.

Article: http://www.cell.com/ajhg/pdfExtended/S0002-9297(16)30266-X
DOI: http://dx.doi.org/10.1016/j.ajhg.2016.06.028

Title
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

Abstract
Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome. Many of the females also have seizures, psychiatric co-morbidities, and orthopedic, gastrointestinal, and growth problems as well as common dysmorphic facial features. HNRNPs are a large group of ubiquitous proteins that associate with pre-mRNAs in eukaryotic cells to produce a multitude of alternatively spliced mRNA products during development and play an important role in controlling gene expression. The failure to identify affected males, the severity of the neurodevelopmental phenotype in females, and the essential role of this gene suggests that male conceptuses with these variants may not be viable.

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