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ANGELMAN SYNDROME: ETIOLOGIES AND GENETIC COUNSELING

Angelman syndrome (AS) is a neurogenetic disease involving mental retardation, dysmorphism and epilepsy. Its prevalence is 1 in 12,000. Angelman syndrome (AS) is associated with loss of function of one gene or more in the 15q11-q13 region. The mostly implicated gene is the UBE3A, subject to parental imprinting; only the maternal copy is active. We report the case of a child who's 8 years old with no family history and who has a discrete dysmorphology and epilepsy since he was 1 year old. The diagnosis of Angelman's disease has been confirmed by the presence of a deletion of the 15q11-13 region. In most cases, it is difficult to confirm the diagnosis of Angelman syndrome, especially face to the multiple etiologies, which requires a complete and methodical diagnostic strategy to inform the family about the risks of recurrence and the interest of performing prenatal diagnosis.