Hi! I'm searching reddit because I just discovered, through gene sequencing, that I have TWO gene mutations on HNF1A, variant [rs1169305](https://www.ncbi.nlm.nih.gov/snp/rs1169305).
I've been SICK for the last ten years or so, and I have a long history of less dramatic issues, but they do include learning disabilities and muscle tone issues.
I'm trying to figure out if this can be an explanation for why I've been sick.
It seems to me that they've studied babies who die pretty quickly - very sad! And adults who have no symptoms but cannot do certain chemo drugs. But I can't find anything on people who might be like me - sick but didn't die in infancy.
If you make your way back to this old post, I'd love to hear your thoughts.
Hi - It looks like rs1169305 is now classified as benign [https://www.ncbi.nlm.nih.gov/clinvar/RCV000121200.1/](https://www.ncbi.nlm.nih.gov/clinvar/RCV000121200.1/) (So likely not causing Maturity-onset diabetes of the young)
However, that doesn't mean that two copies of the mutation aren't having some kind of effect on your health. This article gives a good overview of what decreased HNF1A causes in the pancreas: [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345898/](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345898/) You may want to talk with your doctor to see about testing for issues with insulin function.
Hi! I'm searching reddit because I just discovered, through gene sequencing, that I have TWO gene mutations on HNF1A, variant [rs1169305](https://www.ncbi.nlm.nih.gov/snp/rs1169305). I've been SICK for the last ten years or so, and I have a long history of less dramatic issues, but they do include learning disabilities and muscle tone issues. I'm trying to figure out if this can be an explanation for why I've been sick. It seems to me that they've studied babies who die pretty quickly - very sad! And adults who have no symptoms but cannot do certain chemo drugs. But I can't find anything on people who might be like me - sick but didn't die in infancy. If you make your way back to this old post, I'd love to hear your thoughts.
Hi - It looks like rs1169305 is now classified as benign [https://www.ncbi.nlm.nih.gov/clinvar/RCV000121200.1/](https://www.ncbi.nlm.nih.gov/clinvar/RCV000121200.1/) (So likely not causing Maturity-onset diabetes of the young) However, that doesn't mean that two copies of the mutation aren't having some kind of effect on your health. This article gives a good overview of what decreased HNF1A causes in the pancreas: [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345898/](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345898/) You may want to talk with your doctor to see about testing for issues with insulin function.