Gordon syndrome is caused by mutations (alterations) in the PIEZO2 gene and is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene is necessary to cause the disorder.
Here's a breakdown:
-
PIEZO2 Gene: This gene provides instructions for making a protein called Piezo2. This protein functions as a mechanosensitive ion channel. Essentially, it's a channel in cell membranes that opens in response to mechanical stimuli, like touch, pressure, or stretch, allowing ions (electrically charged atoms) to pass through.
-
Mutations and Channel Function: The mutations in the PIEZO2 gene alter the Piezo2 protein. These altered proteins can affect the ion channels' ability to function correctly, which disrupts various processes. Specifically in Gordon Syndrome, these mutations lead to muscle contractures (shortening and hardening) and limited joint movement, among other symptoms.
-
Autosomal Dominant Inheritance: Gordon syndrome follows an autosomal dominant inheritance pattern. This means:
- Only one copy of the mutated PIEZO2 gene is sufficient to cause the disorder.
- If one parent has Gordon syndrome (and therefore carries one mutated PIEZO2 gene), there's a 50% chance that their child will inherit the mutated gene and develop the syndrome.
- The gene is located on an autosome (a non-sex chromosome), meaning it affects males and females equally.
In summary, Gordon syndrome arises from a genetic defect affecting the functioning of Piezo2 protein channels due to PIEZO2 gene mutations, which are inherited in an autosomal dominant manner.
