Article
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.
Cell reports - 7 Aug 2014
Manzini M Chiara, Xiong Lan, Shaheen Ranad, Tambunan Dimira E, Di Costanzo Stefania, Mitisalis Vanessa, Tischfield David J, Cinquino Antonella, Ghaziuddin Mohammed, Christian Mehtab, Jiang Qin, Laurent Sandra, Nanjiani Zohair A, Rasheed Saima, Hill R Sean, Lizarraga Sofia B, Gleason Danielle, Sabbagh Diya, Salih Mustafa A, Alkuraya Fowzan S, Walsh Christopher A
Abstract excerpt
Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive "founder" mutations in the CC2D1A gene causing fully penetrant cognitive phenotypes, including mild-to-severe ID, ASD, as well as seizures, suggesting shared developmental mechanisms. CC2D1A regulates multiple...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.