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ARD: Auxilin is a novel congenital heart block susceptibility gene that directly affects fetal heart function

 Last Update: 2022-08-19
 Source: Internet
 Author: User

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Objective: Neonatal lupus erythematosus (NLE) may develop following transplacental transfer of maternal autoantibodies and is associated with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ventricular arrhythmias, and myocardial sic.

Methods: Genome-wide association studies were performed in families with at least one CHB cas.

Results: We identified DNAJC6 as a novel fetal susceptibility gene, and reduced cardiac expression of DNAJC6 was associated with disease risk genotype.

Conclusions: This study identifies adjuvant as the first genetic susceptibility factor for NLE to modulate cardiac function, opening new avenues for developing screening and treatment strategies for congenital heart bloc.

Source: Meisgen S, Hedlund M, Ambrosi A, et a.

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