Re: Re: New facts about BPES and women infertility problems

[Guest guest]

I don't see the problem.

If family history has been ruled out, then there are two options left:

(1) (Relatively common-ish?) A spontaneous genetic anomaly (it has to

start somewhere, right?). Not passed on from the parents but the start

of a whole new dynasty of BPES enhancement.

(2) (Rare?) Germline mosaicism: one parent carries the BPES anomaly in

their gametes, but not their other cells (thus no apparent symptoms)-

still only a 50% chance (per child) of it being passed on, hence the

first non-BPES child.

But if I was me, I'd look here:

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes

especially in the 'Sibs of a proband' section.

Rob W

tltne@... wrote:

> Hey Rob,

>

> Then how does a couple have a 2nd child with BPES after there first

> wasn't born with it and it doesn't appear anywhere in there family???

> Thats till confuses people....

>

> Re: blepharophimosis Re: New facts about BPES and women

> infertility problems

>

>

>

>

>

>> you either have BPES or you don't, you cannot be a carrier unless

>> you actually have it (been diagnosed with it /have the traits

>> etc...)...

>

> Don't be too sure. I used to believe that too, until I heard about

> germline mosaicism on this forum.

>

> Rob W

>

>

>

[Guest guest]



Hi Mike,

So your new to the group then? You can see pics of our son etc at the site, he is Ethan, wearing a pumpkin suit as a baby....He's no baby now though, the big 6 1/2 year old! He had his very first surgery just a few months ago, again, you can check out the surgery pics pre and post op....How old is your son Charlie? Have either of you had surgery yet? We would love to see photos of you guys:) If you don't mind could you send them to our e-mail. tltne@... That would be great, it's always nice to know there is someone close to home with the same thing...We have met 2 families with BPES from NZ, Maree and (theres a pic of them in our pics) and great friends of ours here in CHCH a and her son Josh and daughter Saskia...Saskia and Our Ethan are the exact same age! coincidence! She hasn't had surgery yet but her brother Josh is 12 and he's having his first op July 13th, they see the same opthalmologist as Ethan does here in CHCH, he is actually the only Opthalmologist that deals with BPES so we were lucky....He's very talented, his name is Dr Weatherhead...Anyways, talk again soon:)

Leanne and family CHCH, NZ

Re: blepharophimosis Re: New facts about BPES and women infertility problems

Hi Belinda, I noticed you referenced your daughter may be a carrier of BPES but she actually does not have it..however

BPES is not a recessive gene.. it is actually a dominant Gene...

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disorder that is inherited as an autosomal dominant trait

you either have BPES or you don't, you cannot be a carrier unless you actually have it (been diagnosed with it /have the traits etc...)...

Tonikka & Chris

EDMONTON CANADA

On 21-Jun-09, at 7:45 PM, Belinda wrote:

Hiya Kasia,It has more to do with the type of BPES, not so much the parent it is inherited from. My grandfather had boys and girls with and without BPES. All of them have kids. The ones with BPES had kids with BPES and a few were born without it. The ones without BPES haven't had kids with it. My Father passed it on to me, and yet my daughter hasn't got it.I have a suspicion that it will now be a recessive gene for my daughter to either pass on or not. Since my family breed like rabbits I think it's safe to say we deffinately don't have type 1.Don't believe everything the specialists say. One once told my Mum that I would never have children. She didn't know what to make of it but looked to the 'mating habbits' of the other BPES people in the family to know to ignore the comment.*Big Hugs*Be goodBelinda in Brisbane Australia>> Dear All, > > Just a week ago I've talked to my genetic consultant about BPES and women infertility problems. She told me something new for me, as so I thought this could be new for you as well and maybe somehow helpful or interesting:> She said, that in most cases the infertility will appear, if a girl inherits BPES from her daddy. This is my case... there are very small chances to happen if she inherits this disorder from her mum and as you all know boys are not affected with infertility problems... > > Just wanted share my new discovery…> > Best of luck!> > Kasia>

[Guest guest]

Hi All

I wanted to mention something that I think doesn’t match

what Rob has said.

But before I try to explain ….please remember –

these are not things for us to diagnose for ourselves – only a geneticist

can tell you ….

If – as Rob says – the very rare

situation of Germline Mosaicism is believed to be the reason why a child has

BPES, then the stats are not quite what Rob says.

It is my understanding based on talking to 2 different

geneticists about 5 years ago, that it is less than 10%. This doesn’t

mean it is “10%”, it means it is number lower than “10%”.

This is a complicated area – and if I have it wrong,

please can somebody who is a medic set the record straight.

If mother has germline mosaicism – this means that some

portion of her eggs are affected (ie some eggs are affected, some not).

However, if anyone wanted to find out what “how many”, the test

would destroy the eggs. So nobody wants to do the test.

If dad has germline mosaicism – there are billions of

sperm to test …. Too hard to test them all – even to test a sample

is time consuming and expensive. Also – the test destroys the sperm.

I don’t know how the number is calculated – but I

know that it is hard to calculate, and it is low. Please don’t

quote me, instead think to yourself: next time I speak to my geneticist I will ask

them to find out and tell me.

Based on what I recall, the percentage takes into account that

not all eggs are affected / not all sperm are affected, and I don’t

remember if the less than 10% number is for conception or for birth.

There are some members of this group where neither mother nor

father has any symptoms, but more than one child has BPES. Again –

this is really really rare. So please will people remember that.

I hope that helps

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of Rob

Sent: 22 June 2009 12:58

blepharophimosis

Subject: Re: blepharophimosis Re: New facts about BPES and women

infertility problems

I don't see the problem.

If family history has been ruled out, then there are two options left:

(1) (Relatively common-ish?) A spontaneous genetic anomaly (it has to

start somewhere, right?). Not passed on from the parents but the start

of a whole new dynasty of BPES enhancement.

(2) (Rare?) Germline mosaicism: one parent carries the BPES anomaly in

their gametes, but not their other cells (thus no apparent symptoms)-

still only a 50% chance (per child) of it being passed on, hence the

first non-BPES child.

But if I was me, I'd look here:

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes

especially in the 'Sibs of a proband' section.

Rob W

tltne@... wrote:

> Hey Rob,

>

> Then how does a couple have a 2nd child with BPES after there first

> wasn't born with it and it doesn't appear anywhere in there family???

> Thats till confuses people....

>

> Re: blepharophimosis Re: New facts about BPES and women

> infertility problems

>

>

>

>

>

>> you either have BPES or you don't, you cannot be a carrier unless

>> you actually have it (been diagnosed with it /have the traits

>> etc...)...

>

> Don't be too sure. I used to believe that too, until I heard about

> germline mosaicism on this forum.

>

> Rob W

>

>

>

[Guest guest]

D'oh! Well, there you are then. I was assuming that GM was an

all-or-nowt thing, but apparently not. That'll learn me. It's described

nicely here: http://accessdna.com/info/condition.aspx?topic=162

All rather academic, really, but d'oh again, just the same.

Rob W

Shireen Mohandes wrote:

> Hi All

>

> I wanted to mention something that I think doesn't match what Rob has said.

>

>

>

> But before I try to explain ..please remember - these are not things for us

> to diagnose for ourselves - only a geneticist can tell you ..

>

>

>

> If - as Rob says - the very rare situation of Germline Mosaicism is believed

> to be the reason why a child has BPES, then the stats are not quite what Rob

> says.

>

>

>

> It is my understanding based on talking to 2 different geneticists about 5

> years ago, that it is less than 10%. This doesn't mean it is " 10% " , it means

> it is number lower than " 10% " .

>

> This is a complicated area - and if I have it wrong, please can somebody who

> is a medic set the record straight.

>

> If mother has germline mosaicism - this means that some portion of her eggs

> are affected (ie some eggs are affected, some not). However, if anyone

> wanted to find out what " how many " , the test would destroy the eggs. So

> nobody wants to do the test.

>

> If dad has germline mosaicism - there are billions of sperm to test .. Too

> hard to test them all - even to test a sample is time consuming and

> expensive. Also - the test destroys the sperm.

>

>

>

> I don't know how the number is calculated - but I know that it is hard to

> calculate, and it is low. Please don't quote me, instead think to yourself:

> next time I speak to my geneticist I will ask them to find out and tell me.

>

> Based on what I recall, the percentage takes into account that not all eggs

> are affected / not all sperm are affected, and I don't remember if the less

> than 10% number is for conception or for birth.

>

>

>

>

>

> There are some members of this group where neither mother nor father has any

> symptoms, but more than one child has BPES. Again - this is really really

> rare. So please will people remember that.

>

>

>

> I hope that helps

>

> Shireen Mohandes

>

> London, England

>

>

>

>

>

>

>

> From: blepharophimosis

> [mailto:blepharophimosis ] On Behalf Of Rob

> Sent: 22 June 2009 12:58

> blepharophimosis

> Subject: Re: blepharophimosis Re: New facts about BPES and women

> infertility problems

>

>

>

>

>

>

>

>

> I don't see the problem.

>

> If family history has been ruled out, then there are two options left:

> (1) (Relatively common-ish?) A spontaneous genetic anomaly (it has to

> start somewhere, right?). Not passed on from the parents but the start

> of a whole new dynasty of BPES enhancement.

> (2) (Rare?) Germline mosaicism: one parent carries the BPES anomaly in

> their gametes, but not their other cells (thus no apparent symptoms)-

> still only a 50% chance (per child) of it being passed on, hence the

> first non-BPES child.

>

> But if I was me, I'd look here:

> http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene

> <http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene & part=bpes>

> & part=bpes

> especially in the 'Sibs of a proband' section.

>

> Rob W

>

> tltne@... <mailto:tltne%40xtra.co.nz> wrote:

>> Hey Rob,

>>

>> Then how does a couple have a 2nd child with BPES after there first

>> wasn't born with it and it doesn't appear anywhere in there family???

>> Thats till confuses people....

>>

>> Re: blepharophimosis Re: New facts about BPES and women

>> infertility problems

>>

>>

>>

>>

>>

>>> you either have BPES or you don't, you cannot be a carrier unless

>>> you actually have it (been diagnosed with it /have the traits

>>> etc...)...

>> Don't be too sure. I used to believe that too, until I heard about

>> germline mosaicism on this forum.

>>

>> Rob W

>>

>>

>>

>

>

>

>