On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Date of Report

Aug 22, 2017

Full Name

Interferon regulatory factor 2 binding protein like

Chromosome 14 (14q24.3)


The IRF2BPL gene codes for a protein that is thought to play a role in female reproductive development (Heger et al., 2007).

Database Links

GeneCards: GC14M077024

NCBI Gene: 64207

OMIM: 611720

UniProtKB/Swiss-Prot: Q8K3X4

Clinical Significance

A change in the IRF2BPL gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this patient.

The participant, a 6 year old male with developmental regression, hypotonia, difficulty controlling voluntary movements (limb and truncal ataxia), and lack of coordination was found to carry the following genetic change in the IRF2BPL gene: c.514G>T/p.Glu172Ter.

Inheritance Pattern Autosomal dominant
Position chr14:77493622
Transcript NM_024496.3
DNA Change c.514G>T
Protein Change p.Glu172Ter

The patient was meeting his developmental milestones until age 2.5 when he started losing skills. He was previously able to walk, but now has trouble sitting and holding his head upright. He has lost his fine motor skills and keeps his hands in a fist position. His parents report that he seems to be able to understand when others are talking to him, but struggles to move his mouth to form words.

At age 5, he was found to have brain disease (progressive encephalopathy), low muscle tone (muscular hypotonia), and difficulty controlling voluntary movements (limb and truncal ataxia). He also has loose ligaments (ligamentous laxity), uncontrollable movements (choreoathetosis), and overactive reflexes (hyperreflexia).

Some of his other features include:

  • Brain damage (cerebellar ataxia)
  • Abnormal brain activity (EEG abnormality)
  • Difficulty estimating distance when making muscle movements (dysmetria)
  • E ye muscle paralysis (ophthalmoplegia)
  • Eye turned inward (esotropia)
  • Eye turned outward (exotropia)
  • Damage to nerve in eye (cranial nerve VI palsy)
  • Difficulty swallowing (dysphagia)
  • Drooling
  • Loss of bowel and bladder control (bowel and urinary incontinence)
  • Constipation
  • Delayed speech and language development
  • Sleep disturbance
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