Re: Re: Question about clubfoot gene

[Guest guest]

,

This is very interesting. You said that Dr. Dobbs has adentified the

gene??? Where can I find more information about his research?

We have participated in Dr. Hecht's and Dr. Dietz' research but I have

not heard how is their research about identifying the gene going. I

guess Dr. Dobbs outran them.

Dessi ( bilateral CF 9-17-02)

Re: Question about clubfoot gene

This is not a very scientific answer either, just what I have gathered

from my reading. I believe that there are true positional clubfeet

but not many. The majority of clubfeet are caused by a gene, even in

many cases there is no family history of the defect. Remember, this

affects ~ 1 in 1000 babies, statistically it is certainly possible to

have many generations in a family with the gene but no one where the

gene was " active " . Dr. Dobbs has identified the gene and his research

is headed towards prevention.

Jenna (4/7/01) & Sammy (9/25/04, RCF, Dobbs Brace 16-18/7)

> >

> > I'm sorry if this has been explained before, I don't always get to

> > read all the posts. When was born they said his clubfoot was

> > most likely caused by his position in the uterus, but I'm not sure

> > whether they knew for sure or not. 's legs were also bent in

> > addition to his feet. About halfway down his calves his legs turned

> in

> > and his feet were turned in as well.

> >

> > Here's my question? What's the difference between clubfoot caused

> by a

> > gene and clubfoot caused by the position in the uterus? Is there a

> > true clubfoot diagnosis that can be made based on genes? The reason

> > I'm asking is if we decide to have more children it would be nice

> to

> > know if it's genetic or positional. Also, does clubfoot usually

> > involve the legs or just the foot?

> >

> > Thanks,

> > and JEsse 11/10/03 dbb 16/7

[Guest guest]

Just a quick comment on the clubfoot gene question. When my son was born, we

were told his bilateral clubfoot was positional also. We later found out that

it was due to his diagnosis of Digeorge Syndrome. (Digeorge Syndrome is

caused by a missing piece of chromosome number 22q11.) We have had a full

genetic work up and no one in our family has any history of clubfoot and his

only affected chromosome is number 22q11 so I guess this would mean that the

clubfoot gene is located somewhere on this chromosome??

Dessi,

I don't know if any of his findings have been published yet. There is

an article which came out in December:

" Grateful patients contribute to his DNA library, and a genome-wide

scan has allowed initial localization of the involved gene. Next:

narrow down the search to find the specific gene and its protein

product to improve prenatal counseling. Ultimately, Dobbs would like

to devise gene therapy to eliminate the malformation. "

You can link to the whole article here:

http://mednews.wustl.edu/news/page/normal/4468.html

I do know they have been making great progress since this came out

just 4 months ago. If you would like to know more you can try

searching on the Washington University School of Medicine website, for

articles on him.

Your best bet for getting the full story is just to email him directly

at mattdobbs@...

HTH,

> > >

> > > I'm sorry if this has been explained before, I don't always get to

> > > read all the posts. When was born they said his clubfoot was

> > > most likely caused by his position in the uterus, but I'm not sure

> > > whether they knew for sure or not. 's legs were also bent in

> > > addition to his feet. About halfway down his calves his legs turned

> > in

> > > and his feet were turned in as well.

> > >

> > > Here's my question? What's the difference between clubfoot caused

> > by a

> > > gene and clubfoot caused by the position in the uterus? Is there a

> > > true clubfoot diagnosis that can be made based on genes? The reason

> > > I'm asking is if we decide to have more children it would be nice

> > to

> > > know if it's genetic or positional. Also, does clubfoot usually

> > > involve the legs or just the foot?

> > >

> > > Thanks,

> > > and JEsse 11/10/03 dbb 16/7

>

>

>

>

>

>

[Guest guest]

Interesting...I was going off of research we did when I was pregnant

with Jake (we'd found out about him having his clubfoot at an ultrasound

around 24 wks), and at that time there was nothing saying anything about

a genetic link. Sorry for the misunderstanding.

Kassia

3/22/01 (Lt clubfoot, ATTT surgery April 2004)

and 11/22/02

[Guest guest]

But my questions is this: If they locate the responsible gene, can they fix it?

What does this news mean for our cf children who will reproduce some day?

s.

Re: Question about clubfoot gene

Just to clarify, I wanted to discuss what is said here said about it

being a flukey thing and not genetic. People always think that if

they have no other cases of clubfoot in their family that means it is

not genetic, but it really is (not including positional cases, if

there truly are any). The clubfoot in most cases is caused by a

mutation in a gene. It is that particular mutated gene that is

causing the tendons and bones to form the way they do that causes the

clubfoot. Also, from my understanding, that affected gene can be

present but not be active in which case the foot would grow normally.

>

> ,

>

> Good questions! All of our research said that clubfoot tends to be

just

> a flukey thing that happens, it's not genetic. (in our family, Jake is

> the first child that /anyone/, including

> grandparents/great-grandparents, can think of who has had any sort of

> foot problem) In fact, clubfoot starts to form late in the 1st

> trimester/early 2nd trimester, so positioning in the uterus doesn't

have

> much to do with it...the baby still has plenty of space to move

around.

> There is a small link to uterine size (like if you had a small uterus),

> but even that doesn't have a direct correlation. Although, a friend of

> mine at work comes from a family of 5 or 6 kids, and all the boys were

> born with clubfeet. So maybe there is a tendency towards it in some

> families.

>

> The clubfoot really involves the feet- some tendons are too short and

> the bones of the foot don't form quite correctly. It does involve the

> calf muscle (resulting in a shorter achilles tendon), but the actual

> bone structure of the leg is normal. If you look closely at Jake's

> legs, the calf muscle on the left leg (his clubfoot side) does look

> different from the right, but you wouldn't notice it unless I

pointed it

> out to you.

>

> The only thing I requested of my OB when I was pregnant with (our

> 2nd child) was to have an ultrasound done to see if she had clubfeet

> too, just so we wouldn't be surprised at delivery time. She has

totally

> normal feet, although it would have been just fine if she'd had

clubfeet

> too.

>

> Kassia

> 3/22/01 (Lt clubfoot, ATTT surgery April 2004)

> and 11/22/02

>

>

>

[Guest guest]

I emailed him. Like how much blood?

s.

Re: Question about clubfoot gene

I emailed Dr. Dobbs regarding this just to make sure I have my facts

straight -- apparently they are still working on finding the specific

gene as per the article I quoted below. He did ask me to pass on the

information regarding his genetic study, he is looking for subjects

who are interested in participating. He is looking for families with

2 or more affected members. If you are interested in participating

you can email him at mattdobbs@... He would send you a form

letter to take to your local doctor to have a blood sample taken which

would then be shipped back to him (he would pay for the shipping).

Thanks,

> > > >

> > > > I'm sorry if this has been explained before, I don't always

get to

> > > > read all the posts. When was born they said his clubfoot

was

> > > > most likely caused by his position in the uterus, but I'm not

sure

> > > > whether they knew for sure or not. 's legs were also bent in

> > > > addition to his feet. About halfway down his calves his legs

turned

> > > in

> > > > and his feet were turned in as well.

> > > >

> > > > Here's my question? What's the difference between clubfoot caused

> > > by a

> > > > gene and clubfoot caused by the position in the uterus? Is

there a

> > > > true clubfoot diagnosis that can be made based on genes? The

reason

> > > > I'm asking is if we decide to have more children it would be nice

> > > to

> > > > know if it's genetic or positional. Also, does clubfoot usually

> > > > involve the legs or just the foot?

> > > >

> > > > Thanks,

> > > > and JEsse 11/10/03 dbb 16/7

> >

> >

> >

> >

> >

> >

[Guest guest]

Okay, I know this conversation has been going on for awhile and I'm just

catching on so if these questions have been asked already, sorry.

So, are you saying that our babies now could have the gene shut down to prevent

having children with clubfeet? Also, Aidan is my first child, if I want to have

another one I know that child is also at risk. Is there a pill or something I

could take to prevent that gene from turning on?

Our case is hereditary it just skipped my mother's generation. My grandmothers

cousin had two boys with clubfeet. So it skipped my mother and uncle's

generation. My cousins kids are fine, I'm the first in our line of generation

for this to appear. Of course, my two brothers are yet to have kids. It will

be interesting to see how their kids turn out. Especially my twin brothers

kids. I obviously have the gene, I wonder if he does also?

Very interesting!!!

jagrindon jagrindon@...> wrote:

ee,

The answer is theoretically yes. What Dr. Dobbs told me is that the

next step after locating the gene is gene therapy. This could prevent

the gene from " turning on " or at least be able to turn it " off " which

could prevent relapses and possibly eliminate the need for bracing.

And yes, they feel this is do able to help our children when they

start having babies of their own.

> >

> > ,

> >

> > Good questions! All of our research said that clubfoot tends to be

> just

> > a flukey thing that happens, it's not genetic. (in our family,

Jake is

> > the first child that /anyone/, including

> > grandparents/great-grandparents, can think of who has had any sort of

> > foot problem) In fact, clubfoot starts to form late in the 1st

> > trimester/early 2nd trimester, so positioning in the uterus doesn't

> have

> > much to do with it...the baby still has plenty of space to move

> around.

> > There is a small link to uterine size (like if you had a small

uterus),

> > but even that doesn't have a direct correlation. Although, a

friend of

> > mine at work comes from a family of 5 or 6 kids, and all the boys

were

> > born with clubfeet. So maybe there is a tendency towards it in some

> > families.

> >

> > The clubfoot really involves the feet- some tendons are too short and

> > the bones of the foot don't form quite correctly. It does involve

the

> > calf muscle (resulting in a shorter achilles tendon), but the actual

> > bone structure of the leg is normal. If you look closely at Jake's

> > legs, the calf muscle on the left leg (his clubfoot side) does look

> > different from the right, but you wouldn't notice it unless I

> pointed it

> > out to you.

> >

> > The only thing I requested of my OB when I was pregnant with

(our

> > 2nd child) was to have an ultrasound done to see if she had clubfeet

> > too, just so we wouldn't be surprised at delivery time. She has

> totally

> > normal feet, although it would have been just fine if she'd had

> clubfeet

> > too.

> >

> > Kassia

> > 3/22/01 (Lt clubfoot, ATTT surgery April 2004)

> > and 11/22/02

> >

> >

> >

[Guest guest]

- No problem, I understand completely! I'm hoping I didn't

totally confuse everyone!! I'd never heard about any genetic links-

that's an exciting thing to have discovered.

Kassia

3/22/01 (Lt clubfoot, ATTT surgery April 2004)

and 11/22/01

[Guest guest]

Wow, that is so awesome to think perhaps my sons won't have this fear or problem

when they marry. Especially Everett who appears to get it from both sides of

the family.

s.

Re: Question about clubfoot gene

ee,

The answer is theoretically yes. What Dr. Dobbs told me is that the

next step after locating the gene is gene therapy. This could prevent

the gene from " turning on " or at least be able to turn it " off " which

could prevent relapses and possibly eliminate the need for bracing.

And yes, they feel this is do able to help our children when they

start having babies of their own.

> >

> > ,

> >

> > Good questions! All of our research said that clubfoot tends to be

> just

> > a flukey thing that happens, it's not genetic. (in our family,

Jake is

> > the first child that /anyone/, including

> > grandparents/great-grandparents, can think of who has had any sort of

> > foot problem) In fact, clubfoot starts to form late in the 1st

> > trimester/early 2nd trimester, so positioning in the uterus doesn't

> have

> > much to do with it...the baby still has plenty of space to move

> around.

> > There is a small link to uterine size (like if you had a small

uterus),

> > but even that doesn't have a direct correlation. Although, a

friend of

> > mine at work comes from a family of 5 or 6 kids, and all the boys

were

> > born with clubfeet. So maybe there is a tendency towards it in some

> > families.

> >

> > The clubfoot really involves the feet- some tendons are too short and

> > the bones of the foot don't form quite correctly. It does involve

the

> > calf muscle (resulting in a shorter achilles tendon), but the actual

> > bone structure of the leg is normal. If you look closely at Jake's

> > legs, the calf muscle on the left leg (his clubfoot side) does look

> > different from the right, but you wouldn't notice it unless I

> pointed it

> > out to you.

> >

> > The only thing I requested of my OB when I was pregnant with

(our

> > 2nd child) was to have an ultrasound done to see if she had clubfeet

> > too, just so we wouldn't be surprised at delivery time. She has

> totally

> > normal feet, although it would have been just fine if she'd had

> clubfeet

> > too.

> >

> > Kassia

> > 3/22/01 (Lt clubfoot, ATTT surgery April 2004)

> > and 11/22/02

> >

> >

> >

[Guest guest]

Thanks . It will be interesting to see how this unfolds in the future.

jagrindon jagrindon@...> wrote:

,

In my understanding of this, I don't think they are close enough to

" solving " this one to let you prevent it in your own future

pregnancies. There is certainly a great potential to have this thing

licked by the time our babies have their own babies.

I'm not sure what the method of gene therapy would be, a pill is a

possibility, but I don't know too much about that part of things yet.

It appears that the gene doesn't usually follow the traditional

dominant/recessive patterns that we all learn about in biology class,

it seems to be controlled/affected by multiple factors thus making it

difficult to pinpoint.

Hope this helps,

> > >

> > > ,

> > >

> > > Good questions! All of our research said that clubfoot tends to be

> > just

> > > a flukey thing that happens, it's not genetic. (in our family,

> Jake is

> > > the first child that /anyone/, including

> > > grandparents/great-grandparents, can think of who has had any

sort of

> > > foot problem) In fact, clubfoot starts to form late in the 1st

> > > trimester/early 2nd trimester, so positioning in the uterus doesn't

> > have

> > > much to do with it...the baby still has plenty of space to move

> > around.

> > > There is a small link to uterine size (like if you had a small

> uterus),

> > > but even that doesn't have a direct correlation. Although, a

> friend of

> > > mine at work comes from a family of 5 or 6 kids, and all the boys

> were

> > > born with clubfeet. So maybe there is a tendency towards it in

some

> > > families.

> > >

> > > The clubfoot really involves the feet- some tendons are too

short and

> > > the bones of the foot don't form quite correctly. It does involve

> the

> > > calf muscle (resulting in a shorter achilles tendon), but the

actual

> > > bone structure of the leg is normal. If you look closely at Jake's

> > > legs, the calf muscle on the left leg (his clubfoot side) does look

> > > different from the right, but you wouldn't notice it unless I

> > pointed it

> > > out to you.

> > >

> > > The only thing I requested of my OB when I was pregnant with

> (our

> > > 2nd child) was to have an ultrasound done to see if she had

clubfeet

> > > too, just so we wouldn't be surprised at delivery time. She has

> > totally

> > > normal feet, although it would have been just fine if she'd had

> > clubfeet

> > > too.

> > >

> > > Kassia

> > > 3/22/01 (Lt clubfoot, ATTT surgery April 2004)

> > > and 11/22/02

> > >

> > >

> > >