Jan 04, 2018
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).
Changes in the IRF2BPL gene were identified in two UDN participants.
Participant 031, 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 (position: chr14:77493622, transcript: NM_024496.3)
Participant 044, a 20 year old male with regression, paralysis (spastic tetraplegia), and brain damage (cerebellar atrophy) was found to carry the following genetic change in the IRF2BPL gene: c.562C>T/p.R188X (position: chr14:77493574, transcript: NM_024496)
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