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HNRNPU Related
Neurodevelopmental Disorder

HNRNPU is a gene on chromosome 1q44 that encodes a protein called heterogenous nuclear ribonucleoprotein U (HNRNPU).  The heterogenous nuclear ribonucleoproteins (HNRNP) are a group of proteins with roles in DNA and RNA processing. The HNRNPU protein has several roles, including in alternative splicing, in which RNA is trimmed and re-organized before being translated into a protein. HNRNPU is expressed in various organs within the body, including the brain, and mutations in the gene can cause neurodevelopmental delays and epilepsy. Almost all cases are de novo, meaning it is not inherited from a parent. 

Better Future 4 U is dedicated to the cause of helping understand this mutation, its challenges and to aid the research of this field via funding. We also aim to connect families and caregivers that have family members in this mutation category with the hope of providing a better future for those of us in the HNRNPU; the "U" family as we like to call ourselves.

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:

 

  • Seizures, Epilepsy usually occurring before 24 months

  • Developmental Delay, Intellectual Disability or both

  • Autism or autistic features

  • Irregularities in organs such as heart or kidneys

  • Low muscle tone (Hypotonia)

  • Strabismus and eye abnormalities

  • Speech and language delay or absence of speech

  • Feeding issues

Hospital2014.jpeg
Hospital2014.jpeg

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's.

info@BF4U.org

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