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#23804 - 02/07/09 06:49 AM Genetics
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
Our little Kylie's results came back from Genedx in Maryland and so far they did not find a mutation on the TGM1 gene. Next step is for them to look at the ALOX12B & ALOXE3.

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#23806 - 02/07/09 03:47 PM Re: Genetics [Re: KyliesMommmy]
BritMum Offline
Member

Registered: 07/25/08
Posts: 226
Loc: UK
Can I ask what type of sample they took? The reason being is our geneticist has said we can only get a definitive diagnosis following a skin biopsy but I'm sure a mouth swab or blood sample could hold some answers too! What type are they suspecting wth Kylie? We think we're dealing with nbCIE!

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#23807 - 02/07/09 07:08 PM Re: Genetics [Re: BritMum]
KimNL Offline
Member

Registered: 07/31/08
Posts: 146
Loc: Holyrood, NL, Canada
Hi, when we had Casey's gene testing done at GeneDx, it was by a simple blood test. She was negative for TGM1, ALOX12B and ALOXE3.
She finally tested positive for a mutation in the Ichthyin gene.
_________________________
Kim
Mom to Casey born Feb 17/08(?LI/CIE), Sara born Feb 18/06, and Kaitlyn born July 2/03
Casey has been tested positive for a genetic mutation in the ICHTHYIN gene (which is indicative of either LI or CIE)


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#23811 - 02/08/09 07:25 AM Re: Genetics [Re: BritMum]
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
We had a biopsy done first on Kylie. We since found out that it was not necessary if we would be going ahead with the genetics testing. The lab used a blood sample because she was too young to use a cheek swab sample. You must be 6 months or older for that method. They believe her to have a mild case of lamellar. I think maybe nbcie? I believe the two are very similar and are grouped together almost as one now and they are calling them arci.

Anyone notice enlarged lymphnodes in the neck almost all the time or very often. Kylie has had an enlarged lymphnode in her neck for a couple of months. Her pediatrician has said it is probably due to her skin condition?

-Kylie's Mom

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#23812 - 02/08/09 07:26 AM Re: Genetics [Re: KyliesMommmy]
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
We had a biopsy done first on Kylie. We since found out that it was not necessary if we would be going ahead with the genetics testing. The lab used a blood sample because she was too young to use a cheek swab sample. You must be 6 months or older for that method. They believe her to have a mild case of lamellar. I think maybe nbcie? I believe the two are very similar and are grouped together almost as one now and they are calling them arci.

Anyone notice enlarged lymphnodes in the neck almost all the time or very often. Kylie has had an enlarged lymphnode in her neck for a couple of months. Her pediatrician has said it is probably due to her skin condition?

-Kylie's Mom

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#24101 - 04/02/09 03:14 AM Re: Genetics [Re: KyliesMommmy]
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
A Quick update:

Kylie's genetics tests for ALOX12B & ALOXE3 have also come back NEGATIVE. I guess the next round of testing will be for the ICHTHYIN gene.

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#24118 - 04/04/09 02:01 PM Re: Genetics [Re: KyliesMommmy]
KimNL Offline
Member

Registered: 07/31/08
Posts: 146
Loc: Holyrood, NL, Canada
Casey's affected gene is ICHTHYIN.
_________________________
Kim
Mom to Casey born Feb 17/08(?LI/CIE), Sara born Feb 18/06, and Kaitlyn born July 2/03
Casey has been tested positive for a genetic mutation in the ICHTHYIN gene (which is indicative of either LI or CIE)


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#24135 - 04/07/09 03:08 AM Re: Genetics [Re: KimNL]
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
I would love to see photos of Casey.

Thanks!

-Kylie's Mom

Kylie 7 1/2 months Lamellar?? or NBCIE??

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#24139 - 04/07/09 09:57 PM Re: Genetics [Re: KyliesMommmy]
KimNL Offline
Member

Registered: 07/31/08
Posts: 146
Loc: Holyrood, NL, Canada
Hi there,
You can see a few pics of Casey at this email address:
http://picasaweb.google.com/KimGhaney/Casey#
She is pretty mild but has "flare-ups" where her skin has thicker scales. Fortunately, these phases don't tend last that long!
I'll look for some of when she is a little worse and send them on.
What does your daughter's condition present like?
Kim
_________________________
Kim
Mom to Casey born Feb 17/08(?LI/CIE), Sara born Feb 18/06, and Kaitlyn born July 2/03
Casey has been tested positive for a genetic mutation in the ICHTHYIN gene (which is indicative of either LI or CIE)


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#24140 - 04/08/09 03:38 AM Re: Genetics [Re: KimNL]
KyliesMommmy Offline
Member

Registered: 01/12/09
Posts: 29
Loc: NY
Kylie's skin is very dry and goes thru a cyle wear she peels looks ok then gets very dry and peels... She only has a white fine scale similar to Casey. Do Casey's tops of her hand and feet have alot of markings (lines)? Kylie's do. What products do you use for Casey as far as bath, lotions, shampoo, etc...?

Thanks for the info.

P.S. Your children are all very adorable!

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