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

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Title: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Authors: Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Stoyanov G; Faculty of Medicine, University of Cologne, Cologne, Germany., Erger F; Faculty of Medicine, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Settas N; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., London E; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA., Torti E; GeneDX, Gaithersburg, MD, USA., Haldeman-Englert C; Mission Fullerton Genetics Center, Asheville, NC, USA., Sklirou E; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Kessler E; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Ceulemans S; Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Palmer CGS; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Institute for Society and Genetics, UCLA, Los Angeles, CA, USA., Signer RH; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA., Willaert R; Baylor Genetics Laboratory, Houston, TX, USA., Person R; GeneDX, Gaithersburg, MD, USA., Telegrafi A; GeneDX, Gaithersburg, MD, USA., Sievers A; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Laugsch M; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Theiß S; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Cheng Y; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Stocco A; INTEGRIS Pediatric Neurology, Oklahoma City, OK, USA., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. Christian.Schaaf@med.uni-heidelberg.de.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. Christian.Schaaf@med.uni-heidelberg.de.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Christian.Schaaf@med.uni-heidelberg.de.
Corporate Authors: Undiagnosed Diseases Network
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1465-1473. Date of Electronic Publication: 2021 Apr 08.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
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Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Torti+E%22">Torti E</searchLink>; GeneDX, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Haldeman-Englert+C%22">Haldeman-Englert C</searchLink>; Mission Fullerton Genetics Center, Asheville, NC, USA.<br /><searchLink fieldCode="AU" term="%22Sklirou+E%22">Sklirou E</searchLink>; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kessler+E%22">Kessler E</searchLink>; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Ceulemans+S%22">Ceulemans S</searchLink>; Genetics/Dysmorphology, Rady Children's Hospital, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nelson+SF%22">Nelson SF</searchLink>; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Palmer+CGS%22">Palmer CGS</searchLink>; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Department of Psychiatry & Biobehavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Institute for Society and Genetics, UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Signer+RH%22">Signer RH</searchLink>; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Andrews+MV%22">Andrews MV</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Grange+DK%22">Grange DK</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Willaert+R%22">Willaert R</searchLink>; Baylor Genetics Laboratory, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Person+R%22">Person R</searchLink>; GeneDX, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Telegrafi+A%22">Telegrafi A</searchLink>; GeneDX, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sievers+A%22">Sievers A</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Laugsch+M%22">Laugsch M</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Theiß+S%22">Theiß S</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Cheng+Y%22">Cheng Y</searchLink>; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Biomedicine West Wing, International Centre for Life, Times Square, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Lichtarge+O%22">Lichtarge O</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Katsonis+P%22">Katsonis P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Stocco+A%22">Stocco A</searchLink>; INTEGRIS Pediatric Neurology, Oklahoma City, OK, USA.<br /><searchLink fieldCode="AU" term="%22Schaaf+CP%22">Schaaf CP</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. Christian.Schaaf@med.uni-heidelberg.de.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany. Christian.Schaaf@med.uni-heidelberg.de.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Christian.Schaaf@med.uni-heidelberg.de.
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