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Mutations and Variants

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Old 01-24-2007, 08:27 AM   #1
Join Date: Jan 2007
Location: PA
Posts: 2
dhd HB User
Mutations and Variants

Hi, everyone! I'm hoping someone out there has some advice. I'm 12 weeks pregnant and I learned a few weeks ago that I'm a CF carrier. I have delta 508. My husband had a more advanced screening done and while he doesn't have any mutations, he has two variants: 5T and M407V. We just learned that part yesterday.

We've met and spoke with our genetic counselor, but honestly it's all confusing. While our "chances" of having a baby with CF seem lower than if my husband and I both had mutations, it still sounds like we could have anything from a totally healthy baby, to a baby with "atypical" CF to full blown CF. Anyone else in this situation? Also, I think atypical CF is a blanket term for kids that have these mutations but don't necessarily have CF in it's traditional form--they have things like pancreatitis, sinusitis, congential absence of the vas deferns, etc. But does anyone know more or have good resource suggestions?


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Old 01-25-2007, 08:45 AM   #2
matt's mom
Join Date: Jan 2006
Posts: 84
matt's mom HB User
Re: Mutations and Variants

My son has the same mutation as your husband- I think you meant m470v. He has the chronic sinusitis, pancreatic issues and pulmonary issues but they do not treat him as a person with the actual disease. He takes various medications and is sick quite often but he is a typical little boy. You may want to go to the cf webpage or the Boomer Esison webpage. They have an area where you can ask the expert questions - which I did and she helped me understand what the mutations mean.

Best of luck for a happy, and healthy delivery
Matt's Mom

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