Article
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
American journal of medical genetics. Part A - 1 Sept 2020
Curtis Meredith, Baribeau Danielle, Walker Susan, Carter Melissa, Costain Gregory, Lamoureux Sylvia, Liston Eriskay, Marshall Christian R, Reuter Miriam S, Snell Meaghan, Summers Jane, Vorstman Jacob, Jobling Rebekah K
Abstract excerpt
Angelman syndrome (AS) is a genetic neurodevelopmental disorder caused by loss or deficient expression of UBE3A on the maternally inherited allele. In 10-15% of individuals with a clinical diagnosis of AS, a molecular diagnosis cannot be established with conventional testing. We describe a 13-year-old male with an atypical presentation of AS, who was found to have a novel, maternally inherited, intronic variant...
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