May 22, 2018
interferon induced with helicase C domain 1
The IFIH1 gene provides instructions for making a protein involved in the body’s immune response (MedlinePlus Genetics).
Changes in this gene were identified in two UDN participants.
Participant 011, a 55 year old male with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy was found to carry the following genetic changes in the IFIH1 gene: c.1066C>A/p.P356T (position: chr2: 163144674, transcript: NM_022168) and c.1879G>T/p.E627X (position: chr2:163134090, transcript: NM_022168). Clinicians and researchers believe that these genetic changes are causing the participant’s symptoms.
Participant 069, a 13 year old female with recurrent skin rashes, immune system abnormalities (autoimmune hemolytic anemia, antiphospholipid antibody positivity), and muscle pain (myalgia) was found to carry the following genetic change in the IFIH1 gene: c.1066C>A/p.P356T (position: chr2: 163144674, transcript: NM_022168, paternally inherited). Research is underway to see if this change is causing symptoms in this participant.
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