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Article: Autism gender bias clue found

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'nuther one for you Bill :) Story has been out for a week and a half and I don't

think it's been posted here yet. There's an external link to the full report in

the American Journal of Human Genetics in this story.

- Helen

Autism gender bias clue found

CBC News

Posted: Apr 12, 2012 3:15 PM ET

http://www.cbc.ca/news/health/story/2012/04/12/autism-males.html

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helen_foisy wrote:

> 'nuther one for you Bill :) Story has been out for a week and a half

> and I don't think it's been posted here yet. There's an external link

> to the full report in the American Journal of Human Genetics in this

> story. - Helen

>

> Autism gender bias clue found CBC News Posted: Apr 12, 2012 3:15 PM

> ET http://www.cbc.ca/news/health/story/2012/04/12/autism-males.html

Pricey ($31.50) to read the " full report " . I didn't. But no matter,

there's usefully enough in the Abstract:

[ snip ] " The discovery of apparent reduced penetrance of ASD in

females bearing inherited autosomal SHANK1 deletions provides a possible

contributory model for the male gender bias in autism. The data are also

informative for clinical-genetics interpretations of both inherited and

sporadic forms of ASD involving SHANK1.

The involvement of any SHANK genes in autism _per_se_ is very rare;

SHANK1 is even more so (none known previously, so say the authors).

Thus no significant contribution here toward a useful ASD bio-marker.

The real significance of the findings lies in a *potential*

explanation for *some* of the highly skewed male/female ASD prevalence

ratio. Commonly thought to be an ascertainment bias - much/most? almost

certainly is - maybe *some* of it isn't.

It's good work; but don't lose any sleep over it.

- Bill ...AS, retired clinical/research geneticist

--

WD " Bill " Loughman - Berkeley, California USA

http://home.earthlink.net/~wdloughman/wdl.htm

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