Aug 22, 2017
Interferon regulatory factor 2 binding protein like
The IRF2BPL gene codes for a protein that is thought to play a role in female reproductive development (Heger et al., 2007).
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.
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:
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