Has anyone else hd GeneDx DNA testing for SDS?

August 19, 2004

We got back Zlata Tova's results yestday and the geneticist is even more

convinced that she has SDS. He is looking for a local geneticist who

specializes in SDS. I am not sure wether he will find one or not, do

any of you know of one in the north eastern part of the US?

The report says " One mutation found, suggestive of but not confirmatory

of Shwachman-Diamond Syndrome. One of the common mutations resembling

the pseudogene was found in heterozygous form: in an intron 2 at

position IVS2+2, both T and C were seen. This mutation is also

referred to as c.258+2 T to C. The mutation was confirmed by repeat

analysis using a new aliquot of DNA and method based on restriction

enzyme digestion. No other mutations or heterozygous positions were found.

Interpretation: This mutation has been reported as a causative mutatoin

in Shwachman-Diamond Syndrome (Boocock et al. 2003). Because SDS is a

recessive condition, all affected persons are assumed to have two

mutated alleles. In this patient only one mutation was identified, so

this result while positive does not formally confirm a diagnosis of

SDS. The patient may be a carrier of SDS with similar symptoms by

coincidence, or he may be affected with SDS and have an unrecognized

second mutation. In the Boocock study, anyalysis of 316 SBDS genes in

158 affected individuals yielded 250 genes with detected mutations and

66 where the mutations could not be identified. "

I am also wondering if my new baby should be tested. She had oxygen

issues at birth and possible infection despite having had very low risk

of infection and being full term (38 weeks 4 days).

Yesterday was a long day!

Liba, mommy to Zlata Tova 5/6/98, Tziporah Faiga 1/12/01 and Esther

Rivka 7/13/04

August 19, 2004

Wow, Liba! What a lot of information you received yesterday! But

tell me more about SDS and what it means. What are the

characteristics? What implications does it have? I have not

knowingly heard of this, but it does sound kind of familiar

somewhere in my brain. Is this one of those genetic things that we

Jewish families are more likely to get? I'm going to try to do a

search on this right now.

By the way, my almost 19 year old daughter's Hebrew name is

Tziporah. I LOVE that name!

Jodi Z.

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