Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

Marc R Woodbury-SmithEric DeneaultRyan K C YuenSusan WalkerMehdi ZarreiGiovanna PellecchiaJennifer L HoweNy HoangMohammed UddinChristian R MarshallChristina ChryslerAnn ThompsonPeter SzatmariStephen W Scherer

Published in: Molecular autism (2017)

Penetrance for ASD is high among males but more variable among females with RAB39B mutations. A critical role for this gene in brain development and function is demonstrated.

Keyphrases

intellectual disability
autism spectrum disorder
attention deficit hyperactivity disorder
white matter
copy number
genome wide
resting state
dna methylation
functional connectivity
multiple sclerosis
transcription factor
brain injury