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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).

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Bibliographic Details
Main Authors: Marbach, Felix (Author) , Stoyanov, Georgi (Author) , Erger, Florian (Author) , Stratakis, Constantine A. (Author) , Settas, Nikolaos (Author) , London, Edra (Author) , Rosenfeld, Jill A. (Author) , Torti, Erin (Author) , Haldeman-Englert, Chad (Author) , Sklirou, Evgenia (Author) , Kessler, Elena (Author) , Ceulemans, Sophia (Author) , Nelson, Stanley F. (Author) , Martinez-Agosto, Julian A. (Author) , Palmer, Christina G. S. (Author) , Signer, Rebecca H. (Author) , Andrews, Marisa V. (Author) , Grange, Dorothy K. (Author) , Willaert, Rebecca (Author) , Person, Richard (Author) , Telegrafi, Aida (Author) , Sievers, Aaron (Author) , Laugsch, Magdalena (Author) , Theiß, Susanne (Author) , Cheng, YuZhu (Author) , Lichtarge, Olivier (Author) , Katsonis, Panagiotis (Author) , Stocco, Amber (Author) , Schaaf, Christian P. (Author)
Format: Article (Journal)
Language:English
Published: 08 April 2021
In: Genetics in medicine
Year: 2021, Volume: 23, Issue: 8, Pages: 1465-1473
ISSN:1530-0366
DOI:10.1038/s41436-021-01152-7
Online Access:Resolving-System, kostenfrei, Volltext: https://doi.org/10.1038/s41436-021-01152-7
Verlag, kostenfrei, Volltext: https://www.nature.com/articles/s41436-021-01152-7
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Author Notes:Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London, Jill A. Rosenfeld, Erin Torti, Chad Haldeman-Englert, Evgenia Sklirou, Elena Kessler, Sophia Ceulemans, Stanley F. Nelson, Julian A. Martinez-Agosto, Christina G. S. Palmer, Rebecca H. Signer, Marisa V. Andrews, Dorothy K. Grange, Rebecca Willaert, Richard Person, Aida Telegrafi, Aaron Sievers, Magdalena Laugsch, Susanne Theiß, YuZhu Cheng, Olivier Lichtarge, Panagiotis Katsonis, Amber Stocco and Christian P. Schaaf
Description
Summary:We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).
Item Description:Gesehen am 20.04.2021
Physical Description:Online Resource
ISSN:1530-0366
DOI:10.1038/s41436-021-01152-7

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