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The gene called FMR1 was discovered in 1991 by Drs. Ben Oostra, David Nelson, and Stephen Warren. Drs. Oostra, Nelson, and Warren named this mutation FRAXA. It causes almost all cases of Fragile X syndrome.

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Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

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Fragile X Syndrome - causes, symptoms, diagnosis, treatment, pathology

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intellectual disabilities, ranging from mild to severe

attention deficit and hyperactivity, especially in young children

anxiety and unstable mood

autistic behaviors, such as hand-flapping and not making eye contact

sensory integration problems, such as hypersensitivity to loud noises or bright lights

speech delay with expressive language more severely affected than receptive language

seizures and epilepsy affect about 25% of people with Fragile X syndrome

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There are currently no medicines that can treat Fragile X but there are many medications to target specific symptoms.

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1 in 151 females, or about 1 million women in the United States.

1 in 468 males, or about 320,000 men in the United States.