Article
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Molecular autism - 1 Jan 2017
Woodbury-Smith Marc, Deneault Eric, Yuen Ryan K C, Walker Susan, Zarrei Mehdi, Pellecchia Giovanna, Howe Jennifer L, Hoang Ny, Uddin Mohammed, Marshall Christian R, Chrysler Christina, Thompson Ann, Szatmari Peter, Scherer Stephen W
Abstract excerpt
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype. Methods: Clinical phenotyping, microarray, and whole genome...
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