Early Use of WES Unveils HNRNPU-related Neurodevelopmental Disorder
July 25, 2024
Researchers from UPMC and the University of Pittsburgh including Erika Dreikorn, Christine Munro, Natasha Robin Berman, Amina Kunovac, Daniel Bellissimo, PhD, and Mylynda B. Massart, MD, PhD, published a case report in Frontiers in Genetics that details the diagnosis and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES).
The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder, obsessive-compulsive disorder, tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections. Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient’s symptoms remained difficult to pinpoint. WES revealed a pathogenic missense mutation in the HNRNPU gene, associated with HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) and developmental and epileptic encephalopathy-54.
The study ultimately reinforces the pivotal role of WES in expediting diagnoses, reducing costs, and providing ongoing clinical utility throughout a patient’s life. It further supports the evidence that accessible WES data in primary care settings can enhance patient care by informing future genetic inquiries, enhancing coordination of care, and facilitating precision medicine interventions, resulting in reduced burden on families and the health care system.
Access the full study.
