Retts syndrome in Boys??

[dizzy34]

I didnt know that retts affected boys and that it was girls only, but today i got a letter from our hospital, ds final chromozone test results are back and the letter stated........after testing ds dna for the rare variant strain or Retts syndrome...blah blah...was negative. i asked the neuro doc and he said yes, they have found it affects boys. just thought people might be interested

I had heard this before. I think its MUCH more common in girls but has been found in boys. I have a friend with a DD with Retts and 2 DSs who are fine. Don't know how hereditary it is.

There are very few documented cases. They are almost certainly mosaic, so some of the cells in their body don't have the mutation. Either that or they have very mild mutations. I think it can be pretty isolating for the families to be honest, as they're so much in the minority at get-togethers. It is completely hereditary in that it's entirely genetic, it's just that most cases are new mutations. It's why it took so long to find the gene, because there just are no big families.

Right, I'll shut up now

AFAIK Yes a few boys have been diagnosed with Retts, but as others have said, its rare. The UK retts association do mention boys in their web resourses. www.rettsyndrome.org.uk/ if anyones interested.
Unisarah