Article
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
American journal of medical genetics. Part A - 1 Jul 2018
Sadhwani Anjali, Sanjana Neville E, Willen Jennifer M, Calculator Stephen N, Black Emily D, Bean Lora J H, Li Hong, Tan Wen-Hann
Abstract excerpt
We present three children from two unrelated families with Angelman syndrome (AS) whose developmental skills are far more advanced than any other non-mosaic AS individual ever reported. All have normal gait and use syntactic language spontaneously to express their needs. All of them have a c.2T > C (p.Met1Thr) variant in UBE3A, which abrogates the start codon of isoform 1, but not of isoforms 2 and 3. This...
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