Hello, I am GLI3.
A gene located on chromosome 7, which contains up to 1,000 other genes responsible for cell division, cell growth and the production of protein with cells.
I have been affected with, in this case, an inherited mutation called Polydactyly, a duplication that causes it’s host to have extra fingers or toes.
Polydactyly is an abnormality characterized by extra fingers or toes. The condition may be present as part of a collection of abnormalities, or it may exist by itself. When polydactyly exhibits by itself, it is inherited as an autosomal dominant trait.
A mutation is a change in DNA sequence and when you change DNA that can change you. There are many types of mutations, such as, deletion, insertion or duplications. A duplication is when new genetic material is generated during molecular evolution.
I have a hereditary mutation, past on from from a parent and present during all of my host’s life. My mutation is also known as a germline mutation because it is present in the egg or sperm cells. The DNA from both of Sara’s parents came together and since the DNA contained the mutation, Sara received it as well.
The mother of my host, Sara, has Polydactyly as well. Because I am an autosomal dominant gene, it means Sara only had to have one parent with the mutation to have a 50% chance of me being passed down to her, which is why she now walks around with an extra pinky finger on her right hand. Her child will also automatically have a 50% of receiving the gene as well.
I was affected to cause her to be be born with supernumeral digits.
The postaxial type B Polydactyly that was passed down to her caused me to affect the way her hands were formed, and help in the creation of extra digits on the ulnar side of Sara’s hand. The pinky finger.
You may wonder why she didn’t keep the second little finger she was born with.
The post-axial Polydactyly that has affected her is type B, which means that the extra finger forms as a rudimentary digit attached to the small finger.
Sara’s extra digit formed as nothing more than just a floppy skin tag, easy for doctors to remove. The duplication would have served no use and would have only affected her negatively. This is why her parents made the simple decision of a surgical removal.
Sara’s Polydactyly does not cause her any pain or affect her physically in any way other way. Since the extra digit was removed, there is nothing more than a scar and some difficulty with the use of the original pinky finger to prove it’s existence.
The consequences Sara experienced have been mainly been social.
Felling like she doesn’t fit in, being judged and other possible things that make making connections and friendships difficult for Sara are the hardest things she’s had to learn to deal with. Keeping the mutation secret has been the easiest way for her to pretend it never happened, only telling her closest friends and family members. A fake story to cover up the well-sized scar on her hand has made the experience seemingly disappear.
Although she doesn’t remember the extra digit herself, stories from her parents have made it clear to her that the removal decisions was what was best for her. Sara is completely unaware of any level of discomfort or difficulty of use she ever had with her right hand.
The Polydactyly she was faced with hasn’t bud into her life at all, since the mutation I carry didn’t come along with any syndromes.
Sara was lucky and the Polydactyly in the gene that was passed down to her was an isolated anomaly. An isolated anomaly is when the mutation is only a single anomaly, instead of having many that result in a syndrome.
Even though Sara has had to overcome social difficulties, her recovery from the surgery was easy and didn’t provide her with any physical challenges. Polydactyly can be more harmful to the host, but in Sara’s case, she was lucky the gene she received from her mother was easy enough to deal with and will never hold her back in life.
