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

Felix MarbachGeorgi StoyanovFlorian ErgerConstantine A StratakisNikolaos SettasEdra LondonJill A RosenfeldErin TortiChad Haldeman-EnglertEvgenia SklirouElena KesslerSophia CeulemansStanley F NelsonJulian A Martinez-AgostoChristina G S PalmerRebecca H Signernull nullMarisa V AndrewsDorothy K GrangeRebecca WillaertRichard PersonAida TelegrafiAaron SieversMagdalena LaugschSusanne TheißYuZhu ChengOlivier LichtargePanagiotis KatsonisAmber StoccoChristian Patrick Schaaf

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder.

Keyphrases

chronic pain
pain management
congenital heart disease
gene expression
spinal cord injury
spinal cord
drug induced