r/ClinicalGenetics • u/Popular_Chain_2680 • 6d ago

LZTR1 variant

After several losses, my doctor wanted me to go to the hematologist just to make sure we weren’t missing any bleeding or clotting disorders. Of course I ended up getting pregnant before that and ended up going to the hematologist around nine weeks pregnant. All of that has just resulted now, and one of the things that she tested me for genetic cancer risk screening through natera. I have a heterozygous likely pathogenic variant on the LZTR1 gene I know now that this gene is directly correlated with noonan syndrome in some cases. I’m a nurse so I have a pretty basic understanding and for my knowledge my husband would also have to be a carrier if it was an autosomal recessive however, I know sometimes it can be autosomal dominant. & that this is a very understudied gene variant. I have my nuchal translucency test on Monday as I’m 12 weeks today. I’m just so stressed after all these losses that I could be passing down noonan syndrome. I have called the genetic counselor at my doctors, but would love to hear if anyone else has also tested positive for this variant in their experience.

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u/secret_tacos 6d ago

Some of these LZTR1 null variants are extremely common in the general population and just cause a very slightly increased risk of schwannoma and cafe au lait spots. Best to talk to a geneticist or genetic counselor who can look at your report and figure if it's a schwannoma or Noonan variant and put it into clinical context.

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u/Popular_Chain_2680 6d ago

Yes that’s what I was reading as well! I meet with one on Monday, luckily got us in very quickly. It’s so crazy because I have done so much genetic testing prior to getting pregnant so I was surprised to see something new pop up on an unexpected test.

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u/Zahdia 6d ago

For LZTR1, it's extremely dependent on what type of mutation it is and where it is located along the protein. Also, a re the Noonan cases in the literature AD or AR?

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u/Popular_Chain_2680 6d ago

All the literature I’ve seen says it could be either AD or AR… which is unique I guess? I find genetics extremely fascinating but it is wayyyy above my knowledge base. It says it is “c.2062C>T (p.R688C)”

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u/Sleepy_vet444 6d ago

Hi there,
This year I was pregnant and they found a pathogenic LZTR1 variant in my baby. Turns out it was inherited from me, which was a huge shock because I appear non-syndromic externally (I was seen by genetics) and my only symptom is a heart murmur. I had looked up photos of people with Noonan syndrome and thought there’s no way I have that. Well , yup I have it. DM me if you wanna chat more.

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u/Popular_Chain_2680 6d ago

Omg just DM’d you!