GeneChat

Marfan Syndrome


#1

Hello All,

Does anyone know if these results indicate a mutation? I am new to this!

https://livewello.com/snps/share?index=1511168365&id=5536887362289664

Thanks!
Jessica


#2

Anything green represents a location with no mutation. Yellow indicates one copy of that mutation at that location. Red is two copies of the mutation.

Normally, having one copy (heterozygous) of a mutation makes no difference. Having two copies (homozygous) can have an eff ct, but often does not. You’d have to read up on the specific mutation.

Do a Google search for Promethease. It’s a little complex but will give you a lot more info.


#3

Hi Jessica,

I looked at your report and you have a couple of variants there that have a ‘rare’ minor Allele. You can see this when you hover your mouse over the single letter in the Minor Alelle column. It gives you a percentage, for example 0,38…: 38 percent of people have it, so that particular SNP is not very likely to be causing Marfan, a rare connective tissue disorder. But you also have one with 1%, one with 6% etc… I have Ehlers Danlos syndrome, so I have been digging around in my genes too and what I did is go to Omim.org, look up the gene and click on table view in the menu on the left. The table will give you the rs numbers of all of the known pathogenic alleles within FNB1. Now, you can compare those SNP numbers (rs…) to the yellow and red variants that you have. Not all of the variants will be checked by 23andme, so it may not be possible to diagnose yourself, you may need a geneticist :slight_smile:


#4

In regards to the rare snp that Mari pointed out, it’s not that rare in European populations so probably not significant


#5

I have Loeys Diezt and am short but super bendy. I dislocate and have arterial dissections (2). My relatives are all clasically Marfans looking. Super tall, thin, bendy. Bad hearts.


#6

That sucks to hear, I hope you are doing OK and don’t have any more dissections. I have EDS 3 but luckily my artery are OK.


#7

Marfan syndrome keeps coming up in my searches. I am tall but don’t necessarily have the long skinny fingers etc. I did recently find out I have a distended aortic root which may lead to dissection. It’s scary.