NDLI: De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Content Provider	Springer Nature Link
Author	Shang, Linshan Henderson, Lindsay B. Cho, Megan T. Petrey, Donald S. Fong, Chin To Haude, Katrina M. Shur, Natasha Lundberg, Julie Hauser, Natalie Carmichael, Jason Innis, Jeffrey Schuette, Jane Wu, Yvonne W. Asaikar, Shailesh Pearson, Margaret Folk, Leandra Retterer, Kyle Monaghan, Kristin G. Chung, Wendy K.
Copyright Year	2015
Abstract	Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and glycogen synthase kinase 3 beta (GSK3β)-mediated cell growth, chromatin remodeling, and gene transcriptional regulation. Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features. Among the four variants, two have been previously reported and two are novel. All four amino acids are highly conserved among the PP2A subunit family, and all change a negatively charged acidic glutamic acid (E) to a positively charged basic lysine (K) and are predicted to disrupt the PP2A subunit binding and impair the dephosphorylation capacity. Our data provides further support for PPP2R5D as a genetic cause of ID.
Starting Page	43
Ending Page	49
Page Count	7
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	17
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2015-11-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	PPP2R5D Intellectual disabilities Whole-exome sequencing De novo mutations Protein phosphatase Autism spectrum disorder Neurosciences Human Genetics Molecular Medicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism

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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

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De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism