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D1154N info anyone?

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Cystic Fibrosis
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Posted 10/24/2005 12:08 PM (GMT -7)
We just found out this morning after 3 months of tests that my 4 month old (at present unsymptomatic) has two CF mutations.  I am in the science field and can find nothing about the second mutation they found "D1154N"  does anyone have any info on the symptoms/severity associated with this mutation.  He is deltaF508 (tons of info available on that) and D1154N.

He was tested at birth and came back positive for dF508, then his sweat tests were borderline, his fecal elastase is normal but he has elevated serum trypsinogen for an infant.  He is gaining weight and growing at above normal for his age and has been very healthy with a runny nose for a month (probably normal for a daycare baby).

I am still in a daze over this.  Any advice to find info on D1154N?

Thanks

Posted 10/24/2005 5:26 PM (GMT -7)
Welcome tlmjos to HW,

First of all, by your description is it possible they did blood work to test for the mutations? If so, this might mean that your baby is carrier status only. My daughter was tested by blood tests for all the mutations and she is positive for carrier status the same genetic mutation my boys have with CF. The Delta F508. She is not affected with any symptoms and she does not have cystic fibrosis. My boys sweat test was definately "positive" in the 90's and have symptoms of the disease.

Please check with your physician again or seek a genetic physician for possible carrier status only.

Hope this helps.
Posted 10/25/2005 5:53 AM (GMT -7)

Hi Kathy,

Yes, unfortunately they did confirm the genetic blood tests yesterday--he had it done twice.  He has two mutations the F508del and the D1154N.  The whole family is seeing a geneticist on Monday the 31st.  They will be able to tell a a little more about the polymorphisms he has and how it may affect the severity of the disease, but they know nothing about this D1154N.  I guess it is a relatively new mutation.  You sound like you have your hands full!  I am so glad I have this resource to talk to other CF moms and read stories that can prepare me and encorage me.

I hope your holiday seasons are great ones!

Posted 10/25/2005 6:27 AM (GMT -7)
Oh good tlmjos,

Please keep us updated with what the geneticist says.

I will be praying for good news here.

You can always lean on us!
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