PIEZO1

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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Date of Report

Jul 18, 2017

Full Name

Piezo-type mechanosensitive ion channel component 1

Location
Chromosome 16 (16q24.3)


Function

The PIEZO1 gene codes for a protein that induces mechanically activiated currents in various cell types (Coste et al., 2010).

Database Links

GeneCards: GC16M088781

Genetics Home Reference: PIEZO1 gene

NCBI Gene: 9780

OMIM: 611184

UniProtKB/Swiss-Prot: Q92508

Clinical Significance

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.

Gene PIEZO1
Inheritance Pattern Autosomal dominant/Autosomal recessive
Position Chr16: 88798919 & Chr16: 88782205
Transcript NM_001142864
DNA Change c.2815C>A & c.7374C>G *Note: variants are in cis
Protein Change p.L939M & 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:

  • Intermittent small and pale red blood cells (chronic hypochromic, microcytic anemia)
  • Decreased number of immature red blood cells (reticulocytopenia)
  • Close-set eyes (short palpebral fissure)
  • Ringing in ears (tinnitus)
  • Asthma
  • Stomach inflammation (chronic hypertrophic gastritis)
  • Lactose intolerance
  • Elevated vitamin B12 levels
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