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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-01

AUTHORS

Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald S. Petrey, Chin-To Fong, Katrina M. Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey Innis, Jane Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

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. More... »

PAGES

43-49

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10048-015-0466-9

DOI

http://dx.doi.org/10.1007/s10048-015-0466-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027290167

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26576547


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