From Maryland, USA:
Is there a genetic screen available to a member of the public who is married to someone with high risk of being a carrier for Wolfram Syndrome? For example, if one spouse has a sibling with Wolfram Syndrome, they have a 50% chance of being a carrier. Can the spouse be tested, before they decide to have children? If not, how long might the couple need to wait for such a test to become available?
The inheritance of Wolfram's Syndrome or DIDMOAD may indeed be autosomal recessive, with an abnormality on the short or long arm of chromosome 4. It may also be inherited as an abnormality of microsomal DNA in which case, it is derived from the maternal side only. Tests for both the nuclear and microsomal disorders are available, but only through very specialised genetic laboratories. If you want to go ahead, it would be best to try to organise this through a genetic counselling unit. I am sure there is one at Hopkins.
There is also a Dr J.I. Rotter in the Department of Medicine at the Cedars-Sinai medical Center in Los Angeles who has written about this issue, and who might be able to give more detailed suggestions. Also, if you can get to a Medical Library there is a paper by TG Barret and others in the Journal of Medical Genetics, Vol 37, page 463 in either 1999 or 2000 which might lead to other useful contacts.
Last Updated: Tuesday April 06, 2010 15:09:16
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