English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Background  Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the  UBE3A  gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of  UBE3A  is due to 15q11.2-q13 deletion, mutations in the  UBE3A  gene, paternal uniparental disomy and genomic imprinting defects.    Case presentation  We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11.2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel  UBE3A  intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the  UBE3A  deletion in the two patients. A review of the clinical features of previously reported patients with whole  UBE3A  gene or partial intragenic deletions is presented here together with these two new patients.    Conclusion  Although rare,  UBE3A  intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for  UBE3A  intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the  UBE3A  gene.

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