Son is a CF carrier- Neither husband or I are?

[Sorara22]

Hello all,
This is a new forum to me. I am looking for answers. My son was born in April, he had high bilirubin for the first 5 weeks of his life, both indirect and direct kept increasing. He was on the bilirubin blankets, got tested every other day, they could not figure out the cause. We were sent to Nationwide Children's liver specialist. She ordered a whole bunch of genetic testing. She came back and said he was a carrier of CF and that caused his high bilirubin in the beginning until his body grew.

I just got the genetic report back. It states his variant is NM_00492.3:c. 1210-12T[5];[7].- Reduced function

I have tried to research what this means and I can't find much expect medical articles that I just do not understand. My husband and I both got a blood test to see who of us was a carrier and those came back negative. The doctor said it could be 1 of two things, either the tests for us didn't match his specific type, or his own gene mutated when he was conceived early in pregnancy.

I'm not looking for medical advise, but I just don't understand. If anyone has any insight that could help.

 

[kenna2]

So CF has to start somewhere. I am the first and only one in my family who has it. My parents are the only carriers in their family (including extended). What this means is that he doesn't have CF, but he carries a mutated gene for CF. The report you got back just showed what gene got mutated and it just happens to be one that can cause Cystic Fibrosis. There are over 1,200 different types of mutated genes that can cause Cystic Fibrosis.

To have Cystic Fibrosis, the child has to have one copy of a CF mutated gene from each parent. So both you and your husband would have had to be a carrier to pass that gene on. It's not one or the other, both of you would have to be a carrier for him to have full blown Cystic Fibrosis. Since that is not the case, your son does not have CF. The majority of people go on their entire lives as carriers and have no health issues at all. Some carriers may have issues depending on what their mutation affects. Like GI issues, sinus, lung (asthma), or other. But non carriers can also have issues like these as well.

The only thing I would really advise. So if he were to want to start a family in the future, it would be important that his future spouse is checked, because if she is a carrier, the risk of their child having CF increases. Genetic testing is a really valuable tool. There are chances he might pass this mutated gene on and he might now. But knowing that passing it on is a possibility is always something good to know and something you might be able to avoid. Good luck

 

[findcure]

Based on my understanding, your son inherited one chromosome with 5 T (polypyrimidine tract in intron 8) and another chromosome with 7 T in the CFTR gene. This means that he has the alleles 13 TG and 12 TG (TG repeat tracts), which are immediately behind the T tracts and are binding sites for another protein called TDP-43. When TDP-43 binds to the TG repeats, it reduces the level of functional full-lengh CFTR, leading to CF symptoms. The longer the TG repeats, the stronger TDP-43 binds, and the less functional CFTR.
Statistically, most people have the alleles 9T-11TG/9T-11TG; Your son likely has 5T-13TG/7T-12TG. You, the parent, likely are 5T-13TG/9T-11TG and 7T-12TG/9T-11TG. Both of you has at least one "normal allele(9T-11TG)" that TDP-43 does not bind. You likely need to ask for the test to be done so that they specifically look at the sequences of intron 8 (this may has been renamed as intron 9 recently). Sometimes, they don't sequence introns.
Based on the literature, TDP-43 protein express gradually disappear over time after birth. Hopefully, your son's symptoms will improve over time.

 

[Printer]

Hello all,
This is a new forum to me. I am looking for answers. My son was born in April, he had high bilirubin for the first 5 weeks of his life, both indirect and direct kept increasing. He was on the bilirubin blankets, got tested every other day, they could not figure out the cause. We were sent to Nationwide Children's liver specialist. She ordered a whole bunch of genetic testing. She came back and said he was a carrier of CF and that caused his high bilirubin in the beginning until his body grew.

I just got the genetic report back. It states his variant is NM_00492.3:c. 1210-12T[5];[7].- Reduced function

I have tried to research what this means and I can't find much expect medical articles that I just do not understand. My husband and I both got a blood test to see who of us was a carrier and those came back negative. The doctor said it could be 1 of two things, either the tests for us didn't match his specific type, or his own gene mutated when he was conceived early in pregnancy.

I'm not looking for medical advise, but I just don't understand. If anyone has any insight that could help.

You (family) need to be seen by a CF Specialist at an APPROVED CYSTIC FIBROSIS CLINIC. Go to CFF.org for your nearest clinic

 

[Printer]

The first test for CF is for 32 mutations. The second test is for 250 mutations. There are SEVERAL tests before you get to the top of the ladder. At the top of the ladder is a FULL CYSTIC FIFROSIS SCREENING, it is here that they test for all known mutations approximately 3000.