Neurofibramatosis Type 1 And Autism


Resent researches have shown that people with a rare tumor syndrome, neurofibromatosis type 1 (NF1) have symptoms of autism. The disorder is caused by the mutation of a gene on chromosome 17. This chromosome is responsible for control of cell division. It’s a common genetic disorder, which is not limited to any specific race or sex.

People with this disorder have brown spots on the skin, freckles in the armpits or around groin, tiny bumps on the iris of the eye, learning disabilities, vision disorders, mental disabilities, epilepsy. The resent study has shown that people with this disorder also inherit autism symptoms. The symptoms usually occur in childhood. 50% of people with NH1 symptoms inherited it from their parents.

The researchers think that the study’s findings may help the scientists to understand autism’s nature.
“What’s unique about our findings is that it’s likely mutations in the NF1 gene are driving most of the symptoms of autism in children with NF1,” said John N. Constantino, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics and senior author of the study. “Here, we have a single-gene disorder that affects a fairly large number of people and is causing autism in a significant number of those who are affected. This work could provide us with an opportunity to study a single gene and figure out what it is doing to cause autistic syndromes.”

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  • By Gasket Blog on May 9, 2017 at 12:44 am

    Kit Single S Nh1

    […] ms usually occur in childhood. 50% of people with NH1 symptoms inherited it from […]