As a non-subject matter expert in all of the above, I decided to consult my swear-word-adverse relative that recently graduated genetic counseling school. Here is her response:
The logic is sound (if a little colorful haha đ ). It sounds like this guy functionally only has 1 copy of the OXTR gene, and spot on in hypothesis of nonsense-mediated decay.
How the OXTR gene is regulated, I donât know and havenât looked into. It would be weird (but possible) for a decrease in OXTR expression to only affect emotionsâoxytocin is also important for other brain functions/âdevelopment, so a genetic change should also impact embryological development of the brain. So if I were to suggest next steps, it would be doing functional studies of the brain (like an MRI) to further evaluate.
One other thingâlabs typically filter reportable genome results by the phenotype you give them. I donât know how this guy did the genome, but if he were to put something like âsocial deficitsâ, âemotional dysregulationâ or something else about his lack of emotional range, the lab would definitely report the variant plus their research on it and recommendations.
As a non-subject matter expert in all of the above, I decided to consult my swear-word-adverse relative that recently graduated genetic counseling school. Here is her response:
The logic is sound (if a little colorful haha đ ). It sounds like this guy functionally only has 1 copy of the OXTR gene, and spot on in hypothesis of nonsense-mediated decay.
How the OXTR gene is regulated, I donât know and havenât looked into. It would be weird (but possible) for a decrease in OXTR expression to only affect emotionsâoxytocin is also important for other brain functions/âdevelopment, so a genetic change should also impact embryological development of the brain. So if I were to suggest next steps, it would be doing functional studies of the brain (like an MRI) to further evaluate.
One other thingâlabs typically filter reportable genome results by the phenotype you give them. I donât know how this guy did the genome, but if he were to put something like âsocial deficitsâ, âemotional dysregulationâ or something else about his lack of emotional range, the lab would definitely report the variant plus their research on it and recommendations.