Mutation story

Part 1:

I am Preiffer syndrome i come in every 1 to 10,000 kids but today i chose you. You will be diagnosed with type 2 one of the most sever types. it’s a dominate genetic disorder so only one of your  parent has to carry the gene. But you will get this as a new mutation none of your parents carry the gene so it didn’t get passed down to you. When your still in your mom womb. The plates in your head will join together to early. The skull can’t expand as the brain grows which leads to a limited brain growth. as goes for your other bones in your skull they will form premature and it will effect the shape of your head and face. It will also effect your hands they will be wider than most peoples hands and your thumbs will be deviated. You will be born with a cloverleaf shaped head and bulgy eyes. You probably won’t have a very long life because kids with type 2 or 3 have a higher risk of death than kids with type 1. You got this because their is a mutation of the fibroblast growth factor receptor 1 and chromosome 8. The gene code fibroblast growth , are important for normal bone development. It also can be the change in the FGFR 1 or FGFR 2 and can alter protein function and cause prolonged signaling.

Part: 2

What are questions you are trying to answer.

What is Pfeiffer syndrome,                                                                                      How does it effect their life                                                                                      How many people does it effect,                                                                            Do they have as long as a life expectancy,                                                      Does it effect them mentally or physically or both.

How did you try and answer your questions

To find the questions that i wanted to answer i had to use multiple sites. Like Google thats were you can find most of the information but then you have a full list of sites that all contain information i also found one youtube video that gave a pretty good explanation on what Pfeiffers syndrome.

Did you find relevant information to answer your question and cite where you found it.

I found all the information that belonged to my questions some of the information was easier to find than others.

sites

http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=93259

https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome

https://en.wikipedia.org/wiki/Pfeiffer_syndrome

https://rarediseases.org/rare-diseases/pfeiffer-syndrome/

i also found a YouTube video

How did the process go

The story was a little hard to right because you can’t really get creative with it because it’s mostly facts. But it was a cool and more interesting  way to do it righting it as a story.