HNRNPU
Neurodevelopmental Disorder
HNRNPU is a gene located on chromosome 1q44 that encodes a protein called heterogeneous nuclear ribonucleoprotein U. This protein belongs to a family of HNRNPs—key players in the processing of DNA and RNA. HNRNPU, in particular, is involved in critical functions like alternative splicing, where RNA is trimmed and rearranged before being translated into proteins.
HNRNPU is expressed in many parts of the body, including the brain. Mutations in this gene can lead to significant medical challenges, most commonly neurodevelopmental delays and epilepsy. In nearly all cases, these mutations are de novo, meaning they occur spontaneously and are not inherited from either parent.
Better Future 4 U is a nonprofit organization dedicated to advancing understanding, awareness, and research around HNRNPU neurodevelopmental disorder. We work to fund cutting-edge research and collaborate with scientists to uncover treatments and, one day, a cure. Just as importantly, we build community—connecting families and caregivers navigating life with an HNRNPU diagnosis.
We lovingly call ourselves the “U Family,” united by a rare diagnosis but driven by shared hope. Together, we’re working for a better future for all those impacted by HNRNPU.
The Numbers
01.
To date, there are just over 300 known cases world-wide.
02.
100% Experience developmental delays which includes walking and talking.
03.
More than half of the individuals with HNRNPU are also diagnosed with behavioral disorders, such as Autism Spectrum Disorder.
04.
95% Experience seizures, ranging in types. Some have drug-resistant epilepsy.
05.
80% Experience hypotonia, which is decreased muscle tone.
Source for all data: Meena Balasubramanian. "HNRNPU-Related Neurodevelopmental Disorder" March 10, 2022. Genereview
Symptoms
HNRNPU has moderate to severe effects on the way that communication skills, social skills, and learning skills develop. Because the HNRNPU gene is important in development, many people who have HNRNPU may have:
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Seizures, Epilepsy usually occurring before 24 months
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Developmental Delay, Intellectual Disability or both
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Autism or autistic features
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Irregularities in organs such as heart or kidneys
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Low muscle tone (Hypotonia)
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Strabismus and eye abnormalities
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Speech and language delay or absence of speech
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Feeding issues
Management
Consider standard treatment of seizures with anti-seizure medication as well as newer generation medications for refractory seizures and/or the ketogenic diet. Feeding therapy; consider a temporary or permanent feeding tube for those with persistent feeding issues. Consider supplemental oxygen in those with sleep apnea. Standard treatment for tone abnormalities, intellectual disability, behavioral problems, such as physical therapy, occupational therapy and behavioral therapy.
Consider routine follow ups with specialists for abnormal breathing patterns, congenital heart defects, strabismus, hearing loss, renal anomalies, undescended testes, and limb defects.
Most individuals have required special educational provisions, although children with HNRNPU-NDD may be able to attend a mainstream school with dedicated support. The vast majority of reported adults have required assisted living, which has allowed them some degree of independence.
**Consult your physician for recommendations and treatment.
Source for all data: Meena Balasubramanian. "HNRNPU-Related Neurodevelopmental Disorder" March 10, 2022. Genereview
Support
Building a community within this ultra-rare diagnosis is very important! Parents and caregivers around the world have come together to share information and support.
Facebook Groups:
Research:
Want to Get Involved?
Reach out to us!
We would love to hear your thoughts and ideas. We welcome all to join us in creating a Better Future 4 HNRNPU.