Topic Options
#2779 - 06/22/04 12:04 PM TGM-1 Gene?
JoshsMummy Offline
Member

Registered: 05/26/04
Posts: 63
Loc: QLD Australia
Hello
Joshua is going to have a gene test done, and at the moment the Prof of Genetics is planning on testing the TGM1 gene, I would be very interested to hear from anyone who has a mutation on this gene & the effect it has.
thank you
Kandice [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

------------------

Top
#2780 - 06/22/04 04:27 PM Re: TGM-1 Gene?
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
I thought you said they thought Josh has EHK. TGM-1 is what they test for LI. KRT1 and KRT10 are the genes most commonly found for EHK when the hands and feet are the most affected.

??

Jennifer
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

Top
#2781 - 06/22/04 10:16 PM Re: TGM-1 Gene?
JoshsMummy Offline
Member

Registered: 05/26/04
Posts: 63
Loc: QLD Australia
Okay to clarify...
I did say they thought it was EHK - "they" being the dermatologist we have been unfortunately stuck with since Joshua's birth.
Meanwhile the Professor of Genetics thinks its Lamellar and it is him who is arranging the gene test, hence the TGM 1 test.
I do have a referral for another derm, just waiting the frustratingly long time it takes to get in to see her.
Apparently there is no dermatologist who specialises in Ichthyosis in South Australia so we have been stuck with second rate care. I mean if the derm was serious about it being EHK, knowing that Joshuas gene test is going to be for Lamellar - wouldnt he do something about it - talk to the Geneticist about it?
At this stage I have requested access to the medical library and intend to do more research myself - hoping to find info which will lean either toward EHK or LI so we have a greater chance of success with the gene test.... Dont want to be barking up the wrong tree after all!
I dont know if I'd say Josh's hands & feet are MOST affected, they are certainly severely affected, but other areas of his body are just as bad. Its areas of frequent movement that are bad.

Kandice

------------------

Top

Moderator:  Laura Phillips, Sideshow_bob 

Copyright 2012 Ichthyosis Information