Are the Drs right or could my children still have BPES


#1

Hi. My husband has BPES and although our children do not manifest the condition in their eye shape I do wonder if they still may have the condition. My husband’s mother had her children relatively young and her sister had fertility issues without the eye shape manifestation. My sister in law has BPES like my husband and she has premature ovarian failure (starting in high school). None of my husband’s family have had blood tests to determine Type I or II . The genetics Drs I have spoken with feel that if you do not have the eye shape then you do not have BPES–I struggle with this conclusion. It is so prevalent in my husband’s family that I do suspect it is mapped on my children’s genes but not apparent in their facial features. How can I get blood tests done (espec for my daughter – I would like to be proactive about her potential fertility issues and only a blood test would tell me)? How much are these tests? I live in the Chicago area. Thanks.


#2

Don’t worry. If your kids do not show the abnormality, they do not carry
the gene. This characteristic is called “autosomal dominant” and it’s
interesting. What it means is that you only carry the gene if you show the
malformation. I have two sons, one with bleph and one without. The one who
has the condition carries the gene, and he has one child with bleph. His
other child doesn’t have bleph and does not carry the gene. My second son
doesn’t have bleph, doesn’t carry the gene and obviously his kids do not
show the condition, nor do they have any more chance of passing it on than
any other person without the condition.
Be assured, your kids were just lucky that they didn’t get the gene and they
will not pass anything on to their kids, nor does your daughter have anymore
chance of premature ovarian failure than you did. If it doesn’t show, it
isn’t there.

I hope that helps.

Lexi

On Sun, Mar 30, 2008 at 6:33 PM, seaglassers <
blepharophimosis-cpt8309@lists.careplace.com> wrote:


#3

Lexi,
Thanks–have any of the people that do not show the condition ALSO been tested with a blood test to confirm absence of BPES or have just the ones showing the condition been tested and confirmed the BPES? Just a detail I need to understand before I can just assume my daughter faces similar risks of premature ovarian failure as the general population. Thanks again.


#4

Hi,
Yes, they have been tested and yes, the research is quite conclusive. There
are a bunch of sites that are helpful, which you may have already found, but
I think what would be the best is for you to contact my son - the one who
does have BPES - and talk to him. He’s amazingly knowledgeable and is more
than willing to be helpful. He’s in touch with a lot of people with bleph.
His name is Micah and his address is micah_truman@yahoo.com. I’m not
nearly as conversant with the different sites - or research- as he is. He
and his wife as well as our granddaughter have all had blood tests.

The other suggestion that might be helpful is for you to find a really good
geneticist with some good people skills. If someone explains all this to you
in a really clear way, maybe you can let go of some of the anxiety. It’s not
that the doctors “feel” that if the eye shape isn’t there, it’s that the
research has shown that without exhibiting the condition, it is NOT there.
Given that you’re in Chicago (I was born and raised there), you’ve got some
really good medical help available to you.

I know the worry and can understand your concern. Don’t stop asking
questions until you are satisfied. And feel free to e-mail me anytime.

Best of luck,

Lexi

On Sun, Mar 30, 2008 at 8:47 PM, seaglassers <
blepharophimosis-cpt8309@lists.careplace.com> wrote:


#5

Hi
I am quoting from this site:
http://www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&
key=yvyThuThGZXK5&gry=&fcn=y&fw=suti&filename=/profiles/bpes/index.html

It think that the best thing you can do is to print the whole article, send
it to your doctor, and ask them to explain it to you.

Take care
Shireen Mohandes
London, England

Under Summary you will see:
BPES is inherited in an autosomal dominant manner. Some individuals
diagnosed with BPES have an affected parent. A proband with BPES may have
the disorder as the result of a de novo gene mutation. The proportion of
cases caused by de novo mutations is estimated to be more than 50%. Each
child of an individual with BPES has a 50% chance of inheriting the
mutation. Prenatal testing is available; however, requests for prenatal
testing for conditions such as BPES are not common.

Prevalence
The exact prevalence of BPES is unknown. No differences in prevalence based
on sex, race, or ethnicity have been reported.
Mode of Inheritance
Blepharophimosis, ptosis, and epicanthus inversus syndrome is inherited in
an autosomal dominant manner.
Risk to Family Members
Parents of a proband
. Some individuals diagnosed with BPES have an affected parent.
. A proband with BPES may have the disorder as the result of a de novo
gene mutation. The proportion of cases caused by de novo mutations is
estimated at more than 50% [unpublished data].
. Recommendations for the evaluation of parents of a proband with an
apparent de novo mutation include molecular genetic testing of the FOXL2
gene if a mutation has been identified in the proband and clinical
examination for subtle features of BPES.
Note: Variable expressivity of BPES features has only been reported in
mosaic cases [unpublished data].
Sibs of a proband
. The risk to the sibs of the proband depends upon the genetic status
of the proband’s parents.
. If a parent of the proband is affected, the risk to the sibs is 50%.

. When the parents are clinically unaffected and do not have a FOXL2
mutation, the risk to the sibs of a proband appears to be low.
. If a disease-causing FOXL2 mutation cannot be detected in the DNA of
either parent, two possible explanations are germline mosaicism in a parent
or a de novo mutation in the proband. The risk to the sibs of the proband
depends on the probability of germline mosaicism in a parent of the proband
and the spontaneous mutation rate of FOXL2.
. Germline mosaicism has been observed in BPES and demonstrated at the
molecular level [Beysen et al 2005]; its incidence is unknown.
Offspring of a proband. Each child of an individual with BPES has a 50%
chance of inheriting the mutation.


#6

Shireen–thanks could you post the link again I could not pull up the page with the posted link.


#7

Hi
Try this instead:
In Google search for BPES
Then when you see the link for BPES Family Network, click on it.
Then on the home page click on the link in the large purple box.
That might be easier.
Regards
Shireen Mohandes
London, England

-----Original Message-----
From: seaglassers [mailto:blepharophimosis-cpt8309@lists.careplace.com]
Sent: 01 April 2008 03:05
To: shireen@hartsdale.co.uk
Subject: Re: [blepharophimosis] Are the Drs right or could my children still
have BPES


#8

While the penetrance of BPES is quite high (100% for Type I and 96.5%
for Type II), its expressivity can vary. That means that someone with
the BPES genetic disturbance (‘genotype’) will almost certainly have its
symptoms (‘phenotype’) to some extent, but it might not be obvious if
it’s weakly expressed.

Wikipedia explains these terms quite well
(http://en.wikipedia.org/wiki/Penetrance).

Here’s an example of a journal article that discusses weakly expressed
BPES in the context of genetic counselling:
http://jmg.bmj.com/cgi/content/abstract/26/8/517

My father and son have weakly expressed BPES; I can spot it because I
know what to look for, but most people see nothing wrong, whereas I (and
apparently my paternal grandfather) have much fuller (more obvious +
surgery, etc) expression.

Rob W
Oz

Hi. My husband has BPES and although our children do not manifest the
condition in their eye shape I do wonder if they still may have the
condition. My husband’s mother had her children relatively young and
her sister had fertility issues without the eye shape manifestation. My
sister in law has BPES like my husband and she has premature ovarian
failure (starting in high school). None of my
husband’s family have had blood tests to determine Type I or II . The
genetics Drs I have spoken with feel that if you do not have the eye
shape then you do not have BPES–I struggle with this conclusion. It is
so prevalent in my husband’s family that I do suspect it is mapped on my
children’s genes but not apparent in their facial features. How can I
get blood tests done (espec for my daughter – I would like to be
proactive about her potential fertility issues and only a blood test
would tell me)? How much are these tests? I live in the Chicago area.
Thanks.


#9

Rob,
Great to hear someone so knowledgeable. Don’t suppose you know anything about BPES and racial background? Or surgery in Australia?

My 1yo son has (apparently - haven’t gene tested any of the family) de novo BPES however his sister and my mother have/had epicanthic folds - possibly from Slavic heritage. I’m considering taking him to the States to meet surgeons there (UCLA) who have more experience with the condition than those here.

Best regards,
Carden


From: whatteaux [mailto:blepharophimosis-cpt8309@lists.careplace.com]
Sent: Wed 2/04/2008 10:33 PM
To: Carden Calder
Subject: Re: [blepharophimosis] Are the Drs right or could my children still have BPES


#10

Hi Carden,

All the articles I’ve read say that no link has ever been detected
between race and BPES.

There are surgeons in Oz who have experience with BPES, certainly in
Sinny (e.g. Frank Martin, Brett O’Donnell, et al) and Melb’n (sorry,
can’t remember their names) and possibly in Brisvegas. If you’re
prepared to travel, Moorfields in London is the place to go, by all
accounts (and some of the Oz guys have trained there).

What part of L’Oz are y’all in?

Rob W
Syd-er-ney.

cc13 wrote:


#11

Doctors and scientists worldwide are starting to disagreement the
ethical consequences of prenatal genetic screening. What is implied is
that parents could try to design their own child, or abort any fetus
which does not meet a host of requirements. I found this here: Debate continues concerning ethics of prenatal genetic testing