Cys866Tyr or Cystic Fibrosis Variant?

[MaggieRose]

Not sure where this question belongs but here it goes...My daughter is 2yrs old. She has been sick with respiratory infections and sinus issues pretty much ever since shes been born. Since she has a cousin with CF our doctor decided to have her tested for a cf gene mutation in that she suspected she may have CFTR-Related Metabolic Syndrome. Tests results came back showing Cys866Tyr or Cystic Fibrosis Variant. Our family Dr recommended we see a Pulmonologist. Does anyone know what this means? I'm totally lost.

 

[GenH]

I searched the CFTR2 website and could not find anything listed under 866. I do know the Cys is represented by a C and the Tyr by a Y, so that means you may find information online under C866Y. I did a quick google search and I could see an old forum topic here about it, but the link no longer works.

A variant means it may or may not cause CF, has she had a sweat test? That would provide more information if they are not sure about her genes.

It would also be interesting to know if her cousin has the same mutation or two different ones.

http://www.cftr2.org/

 

[MaggieRose]

Thank you for the information. A CF nurse called me back today and said that they will want to do a sweat test the same day that she sees the specialist. So now we are just waiting on a phone call with an appt day/time. Her cousin has the dF508 mutation.