spontaneous mutation

[Guest guest]

i am not a geneticist but I also have no family history and both my parents were

tested. They say I have a spontaneous mutation. Basically it is just one of

those things that happen when genes get together and mess up. Unfortunately, it

does not tell you if you are dominant or recessive. The only way to find that

out is by having the genetic testing. Mine too came back " negative " becaue they

do not know all the genetic factors for CMT yet.

I am very anxious to find out if I am recessive or dominant as I have a 16 year

old son and would just like to know one way or another so I can mentally prepare

for it. Basically, if you do not pass it along to your child, then most likely

it will end with you (according to the experts and the readings i have done)

Jackie

[Guest guest]

Jackie- I was told today by a genetic counselor w/Athena that my diagnosis of

being a " spontaneous mutation " could be correct or possibly incorrect. I could

have a mutation in a gene that has not been identified yet as causing CMT.

Both my parents had nerve conduction tests last week and they came back fine. My

neurologist doesn't want them to be tested by Athena, but the genetic counselor

advised me to have them do that. She indicated that despite the nerve conduction

tests coming back okay, one of them could still carry the defective gene which

in my case is the LITAF Simple gene.

I am curious to know how many people are indeed " spontaneous mutations " ...I am

hearing that 1/3 is about right.

Amy Hodge

[Guest guest]

My drs. have always said my CMT was a spotaneous mutation. They also say

it's dominant. I passed it on to my 2 children.My neuro also thinks its type

2..

A female and male. My son had it the worst. I am now a grandma to a

beautiful 7 mo old boy. Time will tell for him....naturally we hope he doesn't

have

CMT. He does have a hearing loss tho. My late son was deaf and I have had

problems with my hearing all my life.

Barb Fl.