Gene identified as cause of intellectual disability

The gene is called TRAPPC9. Its mutations cause up to 50% of intellectual disabilities worldwide, says Dr. John B. Vincent of the Center of Addiction and Mental Health. The way his team identified the gene disturbs me. They studied genes of a large family from Pakistan that had at least seven members with non-syndromic intellectual disability and another from Iran. Because “researchers and families themselves have long suspected an inherited factor, based on patterns observed in extended families.” Dr. Vincent says, “This spotlights the intense interest that genetics is bringing to types of inherited intellectual disability that, to date, have been poorly understood.” He is talking about “devising potential therapeutic strategies,” too.

http://www.medicalnewstoday.com/articles/174204.php

This all sounds so familier. The Kallikak family…..the Duke family……Buck V. Bell……..  So it’s coming back, after all?

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3 thoughts on “Gene identified as cause of intellectual disability

  1. The figure “fifty percent of all intellectual disabilities worldwide” actually refers to the number of nonsyndromatic disabilities. The odds that this gene is implicated in all of them is vanishingly small, and it doesn’t look like anyone has made that claim. If this finding pans out, it will just cover one subset of those with nonsyndromatic intellectual disabilities, and that subset will itself probably become a syndrome.

    It would be good to know how the nonsyndromatic intelllectual disabilies are diagnosed. That would help us decide whether we are dealing with a real problem or simply a family being wrongfully painted as a bunch of miscreants.

  2. The link from the Medical News Today link provided to the American Journal of Human Genetics, in turn, links to a study by Mochida et al on an Israeli Arab family re TRAPPC9, not a CAMH study, which is what I was expecting. Maybe CAMH are just commenting on the Mochida study. though a second, Iranian study is also mentioned. I’ll try to track this down properly when I have time, unless someone else beats me to it! (hint, hint)

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