RE: Re: preemies? (genetic testing)

[Guest guest]

My husband and I attended a genetics conference last winter - it was very

interesting in that it focused on genetic causes of hearing loss. The

geneticist (who is from Boston Children's but I can't remember her name) said

that of inherited hearing loss, connexin and its mutations account for 1/2 of

all cases - that's amazing! We know our boys' hearing loss isn't from Connexin

- it's likely x-linked recessive but they haven't identified the gene yet.

We're participating in a genetics study with Medical College of Virginia and VA

commonwealth University and they're actually interested in my immediate family -

they wanted to know if we have family reunions! Hmmm - maybe a Mellert gene?!

LOL!

My brother has a moderate hearing loss in one ear; my nephew (my sister's son)

does also and my uncle (my mother's brother) has hearing loss as well. Pretty

compelling given that the girls in my family haven't had hearing problems... Of

course when Sam - my younger son - was diagnosed 4 months after his brother, my

first thought was that " I did this to you " . I've gotten past that but it was

very hard and painful at first...

Barbara

--- You wrote:

I was also told that we may never learn why our child has a hearing

loss, but then we moved to Boston. The researchers at the

Children's Hospital here are really interested in learning about the

genetics of deafness. I have met quite a few families of kids with

connexin-26-related hearing loss. One year, of the 7 kids in my

son's class, at least 3 were hearing impaired due to connexin-26.

That seems like kind-of a lot to me -- almost half the class just

due to one gene. (As for the other kids, two had other causes and

the other two weren't tested.)

I have also spoken with one of the research geneticists at

Children's/Harvard Med, and she said that most of the causes of

recessive hereditary deafness are known, and they test for all of

the 6 or 7 common ones. I think with time, the reasons for hearing

loss will become less and less mysterious.

--- end of quote ---

[Guest guest]

Hadley is Cx26 too; both my husband and I are carriers of the recessive

gene. Heidi Rehm is the person at Harvard who is leading the charge;

their website is http://hearing.harvard.edu/index.htm. Dr Margaret

Kenna is the ENT at Boston Children's who is studying Connexins as well.

I stay current with the latest research by reviewing the Connexins

deafness page at http://www.crg.es/deafness/

I'd say about half of the HOH kids we know are hearing impaired due to

one of the Connexins.

Kerry

Re: Re: preemies? (genetic testing)

My husband and I attended a genetics conference last winter - it was

very

interesting in that it focused on genetic causes of hearing loss. The

geneticist (who is from Boston Children's but I can't remember her name)

said

that of inherited hearing loss, connexin and its mutations account for

1/2 of

all cases - that's amazing