WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

• Published in: American journal of human genetics Vol. 101; no. 1; pp. 139 - 148
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 06.07.2017; Elsevier
• Subjects: Amino Acid Sequence; Base Sequence; Child, Preschool; Chromosome Deletion; Facies; Female; Gait - genetics; Growth and Development - genetics; Haploinsufficiency - genetics; Humans; intellectual disability; Intellectual Disability - complications; Intellectual Disability - genetics; Male; Mutation - genetics; Proteins - chemistry; Proteins - genetics; RNA Stability - genetics; seizure; Seizures - complications; Seizures - genetics; Syndrome; WD-40; WDR protein; WDR26; WDR protein; WDR26; seizure; WD-40; intellectual disability
• ISSN: 0002-9297; 1537-6605; 1537-6605
• DOI: 10.1016/j.ajhg.2017.06.002

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 feb...