Chromosome 1p36 deletion syndrome is the most common deletion syndrome in humans occurring 1 in 5000 births. Our lab recently established a causal role for the deletion of transcription regulator PR domain containing 16 (PRDM16) gene locus in the cardiomyopathy phenotypes of 1p36 deletion syndrome patients. We showed for the first time that female patients with 1p36 deletion syndrome who lost PRDM16 and who are more affected with cardiomyopathy and are most likely to die from it. Findings of this collaborative work have been recently published in the Journal Circulation: Genomic and Precision Medicine. Check out the paper here!
This study was recently highlighted by the University of Utah Research News. Check out the study here!