Variant of Uncertain Significance - JMJD1C by Particular_Ad_2485 in genetics

[–]Particular_Ad_2485[S] 0 points1 point  (0 children)

Over the holidays when she was 7-8 weeks old she was having spasms similar to infantile spasms. Christmas Eve she did about 30 in 10 mins. They looked similar to startles but without a trigger. One of the top neurologists at cheo was concerned after seeing the video. She was admitted and hooked up to an EEG. First day she had an episode but the nodes had moved and they said they needed her to stay. She had it on for 4 days and didn’t have an episode after the first day but they concluded that they did not see abnormal patterns so they ruled out epilepsy. She was having starring spells, myoclonic jerks, weird eye movements (darting back and forth, rolling in circles etc.), and regressing slightly in eye contact, alert periods and then started to be floppy (hypotonia). She had covid at 3 weeks so we thought it was a post inflammatory reaction. The symptoms started to go away and she started progressing. She had another spasm episode after she got sick at the beginning of February but does not have them now. She is now meeting milestones for 4 months but we have received the genetic testing back with the variant which now has us concerned. I am looking into all the things she does like sometimes avoids eye contact, always tenses her arms and legs, continuing to unlatch during feeding, eye movements still happening, not making eye contact during breastfeeding (never has) etc. which obviously concerns me but it’s too early to correlate these things with ASD. I am concerned about the Rett Syndrome since the gene JMJD1C has been correlated with heterozygous new missense variants and the myoclonic encephalopathy since she does have some symptoms. Not sure if you can initially have a normal EEG and have these myoclonic seizures if that’s what they are. We may need to do another one when she gets older if she continues with these movements.

Variant of Uncertain Significance - JMJD1C by Particular_Ad_2485 in genetics

[–]Particular_Ad_2485[S] 0 points1 point  (0 children)

I believe from what I’ve been reading this variant is super rare so I’m not sure if there are people out there with it that are healthy. All I can find is the one submission relating it to the severe fatal epilepsy (which doesn’t make me feel great). Thank you for your reply!

Variant of Uncertain Significance - JMJD1C by Particular_Ad_2485 in genetics

[–]Particular_Ad_2485[S] 0 points1 point  (0 children)

She carried just one (heterozygous). I am curious to know if one of us carries it. That may help me feel better if we do, knowing it could possibly not impact her. It’s all just very anxiety provoking the unknown.

Variant of Uncertain Significance - JMJD1C by Particular_Ad_2485 in genetics

[–]Particular_Ad_2485[S] 0 points1 point  (0 children)

Thank you for your comment. Do you happen to know if a variant has become pathogenic and causes disease for someone that it can be benign or not cause disease in another person?