Since the initial 6 individuals were identified, as of 2021 we have enrolled 50 additional cases of individuals with variants in hnRNP H2, although many more individuals have been identified. The majority of individuals affected are girls, although we have confirmed variants in 5 boys. Our research has employed the use of a prospective testing battery where we administer assessments remotely to test for various neurologic, behavioral, psychiatric, developmental, and social factors in this genetic group. We have also gathered information from former genetic reports and medical records. Our 2020 virtual family meeting this year was incredible. We were so ecstatic about the turnout. Of the 41 families who attended the meeting, we had the opportunity to conduct physical and neurological exams on 25 individuals, occupational therapy assessments on 20 individuals, physical therapy assessments on 14 individuals, and gait analysis on 11 individuals. These testing measures revealed similar clinical symptoms to that of the original cohort, including atypical facial features, neurologic abnormalities, atypical gait, and abnormal muscle tone, among other clinical findings. Our research manuscript was recently accepted to the journal of Neurology Genetics, and will soon be publicly available! We are immensely grateful for your contribution and hope to give back what you have so generously given to us.
We invite families with hnRNP H2 variants to help us improve our understanding by contacting us and partnering. We need to better understand why changes in hnRNP H2 causes problems with brain function so we can develop new treatments. Please see our posting on clinicaltrials.gov for more information on our study: https://clinicaltrials.gov/ct2/show/NCT03492060?cond=hnrnp&rank=1 or reach out to us at firstname.lastname@example.org.
– Bain Research Lab at Columbia University Irving Medical Center