FRAXE syndrome

FRAXE Syndrome is a genetic disorder linked to the X chromosome, characterized by mild to moderate intellectual disability. It is less common and generally considered to be a milder form of intellectual impairment compared to its more widely recognized counterpart, Fragile X syndrome. FRAXE syndrome results from a specific genetic mutation affecting the FMR2 gene located on the X chromosome.

Causes

FRAXE syndrome is caused by a mutation in the form of an expansion of CGG trinucleotide repeats in the FMR2 gene. Unlike Fragile X syndrome, which involves the FMR1 gene, FRAXE involves expansions that are smaller and occur within a different gene. The FMR2 gene typically plays a role in normal neural development. The expansion of CGG repeats beyond a certain threshold disrupts the normal functioning of the gene, leading to the symptoms associated with FRAXE syndrome.

Symptoms

The symptoms of FRAXE syndrome can vary but generally include mild to moderate intellectual disability. Affected individuals may also exhibit speech and language delays, behavioral problems, and emotional difficulties. Physical features associated with FRAXE are less pronounced than those seen in Fragile X syndrome, and as such, the diagnosis is often made based on intellectual disability and genetic testing rather than physical characteristics.

Diagnosis

Diagnosis of FRAXE syndrome is primarily based on genetic testing, which can identify the CGG trinucleotide repeat expansion in the FMR2 gene. This testing is crucial for distinguishing FRAXE syndrome from Fragile X syndrome and other forms of X-linked intellectual disability. Early diagnosis can aid in the provision of appropriate educational and developmental resources for affected individuals.

Treatment

There is no cure for FRAXE syndrome, and treatment focuses on managing symptoms and supporting the individual's development. This may include special education programs, speech therapy, and behavioral therapy. Early intervention is key to helping individuals with FRAXE syndrome reach their full potential.

Epidemiology

FRAXE syndrome is a rare genetic disorder, and its exact prevalence is not well-documented. It is considered to be less common than Fragile X syndrome, which is the most common form of inherited intellectual disability.

See Also

• Genetic disorder
• X chromosome
• Intellectual disability
• Fragile X syndrome

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