Article
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
Journal of medical genetics - 1 Dec 2021
De Nittis Pasquelena, Efthymiou Stephanie, Sarre Alexandre, Guex Nicolas, Chrast Jacqueline, Putoux Audrey, Sultan Tipu, Raza Alvi Javeria, Ur Rahman Zia, Zafar Faisal, Rana Nuzhat, Rahman Fatima, Anwar Najwa, Maqbool Shazia, Zaki Maha S, Gleeson Joseph G, Murphy David, Galehdari Hamid, Shariati Gholamreza, Mazaheri Neda, Sedaghat Alireza, Lesca Gaetan, Chatron Nicolas, Salpietro Vincenzo, Christoforou Marilena, Houlden Henry, Simonds William F, Pedrazzini Thierry, Maroofian Reza, Reymond Alexandre
Abstract excerpt
BACKGROUND: Pathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia. METHODS: We used echocardiography and telemetric ECG recordings to investigate consequences of Gnb5 loss in mouse. RESULTS: We delineated a key...
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