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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

Fig. 1

Two intragenic deletions within the UBE3A gene (NM_130838.1) were identified by MLPA analysis in patients 1 and 2. a MS-MLPA analysis with the ME028-B2 kit shows a normal methylation pattern and a heterozygous deletion of exon 2 in patient 1. A normal methylation pattern and a heterozygous deletion of exon 9 were observed in patient 2. Red asterisks indicate the deleted exons. b MLPA analysis with the kit P336-A2 confirmed the deletion of exon 2 in patient 1 while a deletion involving exon 9 and 10 was observed in patient 2. In both cases the deletions were de novo. Red asterisks indicate the deleted exons. c Summary of UBE3A intragenic deletions identified in this study and the literature. Exons are depicted as grey boxes. Exons 1 to 5 constitute the steriod co-activation region and exons 3 to 10 constitute the HECT ligase domain, according to Ramamoorthy and Nawaz et al., 2008. UBE3A deletions reported here and in the literature are shown as black bars

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