Article
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain : a journal of neurology - 1 Sept 2019
Le Duc Diana, Giulivi Cecilia, Hiatt Susan M, Napoli Eleonora, Panoutsopoulos Alexios, Harlan De Crescenzo Angelo, Kotzaeridou Urania, Syrbe Steffen, Anagnostou Evdokia, Azage Meron, Bend Renee, Begtrup Amber, Brown Natasha J, Büttner Benjamin, Cho Megan T, Cooper Gregory M, Doering Jan H, Dubourg Christèle, Everman David B, Hildebrand Michael S, Santos Francis Jeshira Reynoso, Kellam Barbara, Keller-Ramey Jennifer, Lemke Johannes R, Liu Shuxi, Niyazov Dmitriy, Payne Katelyn, Person Richard, Quélin Chloé, Schnur Rhonda E, Smith Brooke T, Strober Jonathan, Walker Susan, Wallis Mathew, Walsh Laurence, Yang Sandra, Yuen Ryan K C, Ziegler Andreas, Sticht Heinrich, Pride Michael C, Orosco Lori, Martínez-Cerdeño Verónica, Silverman Jill L, Crawley Jacqueline N, Scherer Stephen W, Zarbalis Konstantinos S, Jamra Rami
Abstract excerpt
The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay....
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