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There are (at least) two possible explanations for those with CHARGE

who are " negative " for CDH7 mutations:

1) There may be more than one gene that causes CHARGE. That is the

case for many genetic conditions. Researchers are actively looking

for other possible genes.

2) We just aren't smart enough to find all of the mutations in CHD7.

Most of the mutations involve a single base pair (like a typo of just

one letter). The CHD7 gene is huge: it has 5901 base pairs, just in

the coding regions. There are 38 different coding regions, separated

by non-coding regions. Finding a typo in that is hard (that's why

it's so expensive). AND, for all we know, the non-coding regions may

also be important. the recent report on scoliosis and CHD7 changes was

a change in a non-coding region!

[as far as we know, there is nothing else that " causes " CHARGE -

nothing that happens during the pregnancy, for example]

Go to the Genetics talks in California for more explanation!

Meg

Meg Hefner MS

Genetic Counselor St. Louis, MO

>

> I was just wondering how to explain why some people born with CHARGE

> syndrome are positive for the CHD7 and others not. In the case of the

> ones that are not, what is the cause of CHARGE then?

>

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Thank you,

Liz

-- Re: genetic question

There are (at least) two possible explanations for those with CHARGE

who are " negative " for CDH7 mutations:

1) There may be more than one gene that causes CHARGE. That is the

case for many genetic conditions. Researchers are actively looking

for other possible genes.

2) We just aren't smart enough to find all of the mutations in CHD7.

Most of the mutations involve a single base pair (like a typo of just

one letter). The CHD7 gene is huge: it has 5901 base pairs, just in

the coding regions. There are 38 different coding regions, separated

by non-coding regions. Finding a typo in that is hard (that's why

it's so expensive). AND, for all we know, the non-coding regions may

also be important. the recent report on scoliosis and CHD7 changes was

a change in a non-coding region!

[as far as we know, there is nothing else that " causes " CHARGE -

nothing that happens during the pregnancy, for example]

Go to the Genetics talks in California for more explanation!

Meg

Meg Hefner MS

Genetic Counselor St. Louis, MO

>

> I was just wondering how to explain why some people born with CHARGE

> syndrome are positive for the CHD7 and others not. In the case of the

> ones that are not, what is the cause of CHARGE then?

>

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