Fragile XE syndrome

Disease Overview

Fragile XE syndrome (FRAXE) is a genetic condition associated with mild to borderline intellectual disabilities with physical features differing from person to person. The characteristic features are learning difficulties, often a consequence of communication problems (speech delay, poor writing skills), hyperactivity, and a shortened attention span. Nearly all cases of FRAXE are caused by a specific type of mutation, called a trinucleotide repeat expansion, in the AFF2 gene, which is located on the X chromosome. A trinucleotide repeat expansion occurs when there is an abnormally large number of repeats of a specific sequence of three nucleotides (building block of DNA) within our DNA. The repeating nucleotides in FRAXE syndrome are CCG. When the number of CCG repeats is over 200, people typically have the signs and symptoms seen in FRAXE. FRAXE is inherited in an X-linked manner.[1283][12169][12170] Although there is no specific treatment for FRAXE, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.

Synonyms

• FRAXE syndrome
• Fragile site, folic acid type
• X-linked mental retardation associated with fragile site FRAXE