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).
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
08 April 2021
|
| In: |
Genetics in medicine
Year: 2021, Jahrgang: 23, Heft: 8, Pages: 1465-1473 |
| ISSN: | 1530-0366 |
| DOI: | 10.1038/s41436-021-01152-7 |
| Online-Zugang: | 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 
|
| Verfasserangaben: | 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 |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1755485840 | ||
| 003 | DE-627 | ||
| 005 | 20230427042538.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210420s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/s41436-021-01152-7 |2 doi | |
| 035 | |a (DE-627)1755485840 | ||
| 035 | |a (DE-599)KXP1755485840 | ||
| 035 | |a (OCoLC)1341405129 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 32 |2 sdnb | ||
| 100 | 1 | |a Marbach, Felix |e VerfasserIn |0 (DE-588)1222440881 |0 (DE-627)174145414X |4 aut | |
| 245 | 1 | 0 | |a Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain |c 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 |
| 264 | 1 | |c 08 April 2021 | |
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 20.04.2021 | ||
| 520 | |a 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). | ||
| 700 | 1 | |a Stoyanov, Georgi |e VerfasserIn |4 aut | |
| 700 | 1 | |a Erger, Florian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Stratakis, Constantine A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Settas, Nikolaos |e VerfasserIn |4 aut | |
| 700 | 1 | |a London, Edra |e VerfasserIn |4 aut | |
| 700 | 1 | |a Rosenfeld, Jill A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Torti, Erin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Haldeman-Englert, Chad |e VerfasserIn |4 aut | |
| 700 | 1 | |a Sklirou, Evgenia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kessler, Elena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ceulemans, Sophia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Nelson, Stanley F. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Martinez-Agosto, Julian A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Palmer, Christina G. S. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Signer, Rebecca H. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Andrews, Marisa V. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grange, Dorothy K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Willaert, Rebecca |e VerfasserIn |4 aut | |
| 700 | 1 | |a Person, Richard |e VerfasserIn |4 aut | |
| 700 | 1 | |a Telegrafi, Aida |e VerfasserIn |4 aut | |
| 700 | 1 | |a Sievers, Aaron |e VerfasserIn |0 (DE-588)1169622860 |0 (DE-627)1034725262 |0 (DE-576)512170649 |4 aut | |
| 700 | 1 | |a Laugsch, Magdalena |d 1968- |e VerfasserIn |0 (DE-588)129620122 |0 (DE-627)475208722 |0 (DE-576)297752081 |4 aut | |
| 700 | 1 | |a Theiß, Susanne |e VerfasserIn |0 (DE-588)1170999131 |0 (DE-627)104034660X |0 (DE-576)512750653 |4 aut | |
| 700 | 1 | |a Cheng, YuZhu |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lichtarge, Olivier |e VerfasserIn |4 aut | |
| 700 | 1 | |a Katsonis, Panagiotis |e VerfasserIn |4 aut | |
| 700 | 1 | |a Stocco, Amber |e VerfasserIn |4 aut | |
| 700 | 1 | |a Schaaf, Christian P. |d 1978- |e VerfasserIn |0 (DE-588)130397318 |0 (DE-627)500686025 |0 (DE-576)298170345 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genetics in medicine |d Amsterdam : Elsevier, 1998 |g 23(2021), 8, Seite 1465-1473 |h Online-Ressource |w (DE-627)338073361 |w (DE-600)2063504-7 |w (DE-576)109132475 |x 1530-0366 |7 nnas |a Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain |
| 773 | 1 | 8 | |g volume:23 |g year:2021 |g number:8 |g pages:1465-1473 |g extent:9 |a Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain |
| 856 | 4 | 0 | |u https://doi.org/10.1038/s41436-021-01152-7 |x Resolving-System |x Verlag |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/s41436-021-01152-7 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210420 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 130397318 |a Schaaf, Christian P. |m 130397318:Schaaf, Christian P. |d 910000 |d 911500 |e 910000PS130397318 |e 911500PS130397318 |k 0/910000/ |k 1/910000/911500/ |p 29 |y j | ||
| 998 | |g 1170999131 |a Theiß, Susanne |m 1170999131:Theiß, Susanne |d 50000 |e 50000PT1170999131 |k 0/50000/ |p 24 | ||
| 998 | |g 129620122 |a Laugsch, Magdalena |m 129620122:Laugsch, Magdalena |d 910000 |d 911500 |e 910000PL129620122 |e 911500PL129620122 |k 0/910000/ |k 1/910000/911500/ |p 23 | ||
| 998 | |g 1169622860 |a Sievers, Aaron |m 1169622860:Sievers, Aaron |d 910000 |d 911500 |e 910000PS1169622860 |e 911500PS1169622860 |k 0/910000/ |k 1/910000/911500/ |p 22 | ||
| 998 | |g 1222440881 |a Marbach, Felix |m 1222440881:Marbach, Felix |d 910000 |d 910600 |e 910000PM1222440881 |e 910600PM1222440881 |k 0/910000/ |k 1/910000/910600/ |p 1 |x j | ||
| 999 | |a KXP-PPN1755485840 |e 3913939253 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"name":{"displayForm":["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"]},"recId":"1755485840","language":["eng"],"note":["Gesehen am 20.04.2021"],"origin":[{"dateIssuedDisp":"08 April 2021","dateIssuedKey":"2021"}],"person":[{"given":"Felix","role":"aut","display":"Marbach, Felix","family":"Marbach"},{"given":"Georgi","role":"aut","display":"Stoyanov, Georgi","family":"Stoyanov"},{"family":"Erger","display":"Erger, Florian","role":"aut","given":"Florian"},{"family":"Stratakis","display":"Stratakis, Constantine A.","role":"aut","given":"Constantine A."},{"family":"Settas","display":"Settas, Nikolaos","role":"aut","given":"Nikolaos"},{"role":"aut","given":"Edra","family":"London","display":"London, Edra"},{"role":"aut","given":"Jill A.","family":"Rosenfeld","display":"Rosenfeld, Jill A."},{"family":"Torti","display":"Torti, Erin","role":"aut","given":"Erin"},{"given":"Chad","role":"aut","display":"Haldeman-Englert, Chad","family":"Haldeman-Englert"},{"role":"aut","given":"Evgenia","family":"Sklirou","display":"Sklirou, Evgenia"},{"role":"aut","given":"Elena","family":"Kessler","display":"Kessler, Elena"},{"display":"Ceulemans, Sophia","family":"Ceulemans","given":"Sophia","role":"aut"},{"family":"Nelson","display":"Nelson, Stanley F.","role":"aut","given":"Stanley F."},{"family":"Martinez-Agosto","display":"Martinez-Agosto, Julian A.","role":"aut","given":"Julian A."},{"family":"Palmer","display":"Palmer, Christina G. S.","role":"aut","given":"Christina G. S."},{"display":"Signer, Rebecca H.","family":"Signer","given":"Rebecca H.","role":"aut"},{"family":"Andrews","display":"Andrews, Marisa V.","role":"aut","given":"Marisa V."},{"display":"Grange, Dorothy K.","family":"Grange","given":"Dorothy K.","role":"aut"},{"given":"Rebecca","role":"aut","display":"Willaert, Rebecca","family":"Willaert"},{"given":"Richard","role":"aut","display":"Person, Richard","family":"Person"},{"role":"aut","given":"Aida","family":"Telegrafi","display":"Telegrafi, Aida"},{"display":"Sievers, Aaron","family":"Sievers","given":"Aaron","role":"aut"},{"role":"aut","given":"Magdalena","family":"Laugsch","display":"Laugsch, Magdalena"},{"role":"aut","given":"Susanne","family":"Theiß","display":"Theiß, Susanne"},{"family":"Cheng","display":"Cheng, YuZhu","role":"aut","given":"YuZhu"},{"family":"Lichtarge","display":"Lichtarge, Olivier","role":"aut","given":"Olivier"},{"given":"Panagiotis","role":"aut","display":"Katsonis, Panagiotis","family":"Katsonis"},{"role":"aut","given":"Amber","family":"Stocco","display":"Stocco, Amber"},{"role":"aut","given":"Christian P.","family":"Schaaf","display":"Schaaf, Christian P."}],"id":{"doi":["10.1038/s41436-021-01152-7"],"eki":["1755485840"]},"type":{"media":"Online-Ressource","bibl":"article-journal"},"physDesc":[{"extent":"9 S."}],"relHost":[{"part":{"issue":"8","pages":"1465-1473","year":"2021","volume":"23","text":"23(2021), 8, Seite 1465-1473","extent":"9"},"disp":"Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to painGenetics in medicine","titleAlt":[{"title":"GIM"}],"corporate":[{"display":"American College of Medical Genetics","role":"isb"}],"title":[{"subtitle":"official journal of the American College of Medical Genetics","title":"Genetics in medicine","title_sort":"Genetics in medicine"}],"physDesc":[{"extent":"Online-Ressource"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"id":{"zdb":["2063504-7"],"issn":["1530-0366"],"eki":["338073361"]},"origin":[{"dateIssuedKey":"1998","publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins","dateIssuedDisp":"1998-","publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md."}],"language":["eng"],"recId":"338073361","note":["Gesehen am 27.07.2023"],"pubHistory":["1.1998/99 -"]}],"title":[{"title_sort":"Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain","title":"Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain"}]} | ||
| SRT | |a MARBACHFELVARIANTSIN0820 | ||