{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Down syndrome (DS) individuals with partial trisomy 21 that include the candidate region on 21q22.2 (0.96 Mb) are at increased risk for congenital heart disease (CHD)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " This region harbors both protein‐coding genes (DSCAM, BACE2, PLAC4) and several non‐coding RNAs, including DSCAM-IT1. Although the specific molecular function of DSCAM-IT1 has not been fully elucidated, its localization within this critical DS CHD candidate region suggests that it may play a regulatory role in gene expression during cardiac development. As a long non-coding RNA, DSCAM-IT1 could potentially contribute to the multifactorial pathogenesis of CHD in DS by influencing the transcriptional activity of nearby genes or modulating epigenetic processes. Further investigations will be necessary to characterize its precise function and mechanistic contributions to CHD.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Maria Chiara Pelleri, Elena Gennari, Chiara Locatelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ygeno.2017.06.004"}], "href": "https://doi.org/10.1016/j.ygeno.2017.06.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28648597"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28648597"}]}]}]}