Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome

作者：Beleza Meireles Ana^*; Cerqueira Rita; Sousa Sergio B; Palmeiro Aida; Ramos Lina

来源：European Journal of Medical Genetics, 2011, 54(3): 348-350.

DOI：10.1016/j.ejmg.2011.02.010

• Angelman
• Syndrome
• UBE3A
• MLPA
• Diagnosis

Angelman syndrome (AS) is characterised by severe developmental delay, severe speech impairment, gait ataxia and/or limb tremor and a unique behavioural phenotype. The diagnosis of AS is based on a combination of clinical features and molecular genetic testing. Currently, molecular genetic testing (methylation analysis and UBE3A sequence analysis) identifies anomalies in about 90% of individuals. The aetiology of the remaining 10% is still unknown.
We report a novel deletion encompassing the exons 5-12 of the UBE3A gene in a girl with AS, identified by MLPA (Multiplex Ligation-dependent Probe Amplification), which was not detected by the conventional diagnostic protocol. We propose that copy number analysis of the UBE3A gene should be considered in individuals whose clinical examination is strongly suggestive of AS, after more common mechanisms have been excluded.

• 出版日期2011-6