Molecular-genetic diagnostics of Angelman syndrome – the Bulgarian experience

What is it about?

The aim of the study was to determine the molecular mechanisms of mutagenesis in Bulgarian patients with Angelmann syndrome (AS). AS is a severe neurodevelopmental disorder caused by loss of expression in brain of the maternally inherited UBE3A gene as a result of various 15q11.2-q13 alterations.

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Why is it important?

The obtained results helped us to develop a systematic diagnostic algorithm in order to provide proper diagnosis for the patients. Combining excellent knowledge in the molecular mechanisms of mutagenesis and proper molecular-genetic diagnosis provides the opportunities for adequate genetic counseling and prophylaxis of the disease in the affected families with Angelmann syndrome.