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- W4285281176 abstract "To provide long-sought evidence for the role of connexin 43 in the propagation of cardiac action potentials. A de novo GJA1, c.175C>T, Pro59Ser mutation was identified in an adult male with features of oculo-dento-digital dysplasia (ODDD). This diagnosis did not explain his severe cardiac problems, from in-utero ventricular tachycardia to lifelong treatment for arrhythmogenic dilated cardiomyopathy. Individuals with the same GJA1 mutation were sought worldwide. A family of 3 individuals, a young father and his 2 infant daughters, were identified who carried an identical GJA1, c.175C>T, Pro59Ser mutation. All three had ODDD but all also had infantile onset arrhythmogenic cardiomyopathy. The father required heart transplant at 9 years of age and died at 24 years of age. One daughter died at 14 months after cardiac arrest and the other died in early childhood while awaiting heart transplant. Connexins are the pore-forming units of gap junction channels, essential for cardiac action potential propagation. The primary member of the connexin family expressed in cardiac gap junctions is connexin 43 encoded by the gene GJA1. Paradoxically, mutations in GJA1 cause ODDD with minimal cardiac involvement despite active searches for evidence of this in affected individuals. We provide evidence for the first time that alteration of Cx43 is associated with severe arrhythmia in humans, and that a very specific locus may be crucial." @default.
- W4285281176 created "2022-07-14" @default.
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- W4285281176 date "2022-01-01" @default.
- W4285281176 modified "2023-10-15" @default.
- W4285281176 title "Recurrent GJA1 Mutation Causing Infantile Arrhythmic Cardiomyopathy Fills Gap in Knowledge of the Junction" @default.
- W4285281176 doi "https://doi.org/10.1016/j.hlc.2022.04.037" @default.
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