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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Fragile XE syndrome is caused by variants (also called mutations) in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved in the process by which the blueprint for making proteins is cut and rearranged to produce different versions of the protein (alternative splicing). Researchers are working to determine which genes and proteins are affected by AFF2.</p><p>Nearly all cases of fragile XE syndrome occur when a region of the AFF2 gene, known as the CCG trinucleotide repeat, is abnormally expanded. Normally, this segment of three DNA building blocks (nucleotides) is repeated approximately 6 to 30 times. However, in people with fragile XE syndrome, the CCG segment is repeated more than 200 times, which makes this region of the gene unstable. (When expanded, this region is known as the FRAXE fragile site.) As a result, the AFF2 gene is turned off (silenced), and no AFF2 protein is produced. It is unclear how a shortage of this protein leads to intellectual disabilities in people with fragile XE syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/fragile-xe-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Fragile XE syndrome?"},{"bodyHtml":"<p>Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/fragile-xe-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"fragile-xe-syndrome","sourceDocuments":[{"name":"Fragile XE syndrome","reviewed":"2014-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:35.810040+00:00","label":"Causes","pageSha256":"2ae56d9a5b24eced54a6c836edb8921665f7eaf1e3242506b413b218ab72aede","sourceUrl":"https://medlineplus.gov/genetics/condition/fragile-xe-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/fragile-xe-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Fragile XE syndrome"},"schemaVersion":1}