Jul 18, 2017
Piezo-type mechanosensitive ion channel component 1
The PIEZO1 gene codes for a protein that induces mechanically activiated currents in various cell types (Coste et al., 2010).
Two variants of uncertain significance in the PIEZO1 gene were identified in a UDN participant.
The participant, a 5-year old male with absolute iron deficiency anemia was found to carry the following genetic changes in the PIEZO1 gene: c.2815C>A/p.L939M and c.7374C>G/p.F2458L.
Of note: The protein coded for by this gene was not found to be defective.
At 20 months, the patient’s parents noticed that he was chewing and eating parts of his crib (pica). At this time, he was found to have low hemoglobin. He underwent an extensive workup, but the cause of his symptoms was not identified.
Currently the patient receives iron supplementation to keep his iron levels stabile. When his iron levels are low, he seems to have speech issues, behave poorly, and be prone to respiratory infections.
Developmentally, the patient has difficulty with speech articulation, but has otherwise been developing typically.
Some of his other features include:
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