AFF2 – FRAXE Intellectual Disability

In a Taiwanese cohort of 321 patients with nonspecific mental retardation, targeted screening for FMR2 (AFF2) full mutations in 206 males and 115 females identified no FRAXE-associated expansions, confirming a low incidence of AFF2-related intellectual disability in this population (PMID:10850542). This X-linked condition remains rare in Chinese cohorts, and the lack of detected variants limits current genetic evidence linking AFF2 to FRAXE Intellectual Disability. No direct functional studies of AFF2 in FRAXE intellectual disability have been reported.

Key Take-home: While AFF2 expansions underlie FRAXE intellectual disability, existing screening data demonstrate extremely low prevalence and highlight the need for additional case reports and functional assays to establish a robust gene–disease association.

References

• Diagnostic molecular pathology : the American journal of surgical pathology, part B • 2000 • Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. PMID:10850542

Evidence Based Scoring (AI generated)