Gene implicated in the heart defects associated with Down’s syndrome

Nature NewsCenterEN 3 min read 100% complete by Beverly A. RothermelOctober 25, 2025 at 04:27 PM

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A study published in Nature by Ranade et al. identifies a potential link between increased dosage of the HMGN1 gene and congenital heart defects (CHDs) common in individuals with Down’s syndrome. Down's syndrome, characterized by an extra copy of chromosome 21, affects approximately half of infants born with it through CHDs. The research highlights that this modest increase in gene dosage can significantly impact developmental processes leading to these heart conditions. This finding could advance the understanding of how specific genes contribute to the characteristics associated with Down’s syndrome and potentially lead to new therapeutic approaches.

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University of Texas Southwestern Medical Center 30% Beverly A. Rothermel 40% Nature ×250% Down's syndrome ×480% Trisomy 21 80%

Keywords

down’s syndrome 100% heart defects 90% gene dosage 80% hmgn1 gene 70% chromosome 21 60% congenital heart defects (chds) 50% developmental processes 40%

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down’s syndrome heart defects gene dosage hmgn1 gene chromosome 21 congenital heart defects (chds)developmental processes

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