Article
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
American journal of human genetics - 6 Jul 2017
Skraban Cara M, Wells Constance F, Markose Preetha, Cho Megan T, Nesbitt Addie I, Au P Y Billie, Begtrup Amber, Bernat John A, Bird Lynne M, Cao Kajia, de Brouwer Arjan P M, Denenberg Elizabeth H, Douglas Ganka, Gibson Kristin M, Grand Katheryn, Goldenberg Alice, Innes A Micheil, Juusola Jane, Kempers Marlies, Kinning Esther, Markie David M, Owens Martina M, Payne Katelyn, Person Richard, Pfundt Rolph, Stocco Amber, Turner Claire L S, Verbeek Nienke E, Walsh Laurence E, Warner Taylor C, Wheeler Patricia G, Wieczorek Dagmar, Wilkens Alisha B, Zonneveld-Huijssoon Evelien, Kleefstra Tjitske, Robertson Stephen P, Santani Avni, van Gassen Koen L I, Deardorff Matthew A
Abstract excerpt
We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of...
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