{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n In a patient with mild intellectual deficiency, a de novo balanced translocation between chromosomes 3 and 5 was identified, with one breakpoint located 228 kb upstream of the MEF2C gene. Detailed genomic analyses—including microarray, Array Painting, and Sanger sequencing—revealed that the affected topologically associated domain (TAD) encompasses both the MEF2C gene and the long non‐coding RNA LINC01226 (1). Although the study primarily demonstrated an overexpression of MEF2C in the patient’s lymphoblastoid cells, which parallels that observed in cases with 5q14.3 microduplications, the specific functional contribution of LINC01226 remains to be elucidated. Its localization within the same TAD as MEF2C suggests that LINC01226 may play a role in the regulatory architecture that governs MEF2C expression, and by extension, might contribute to neurodevelopmental processes. Further research is needed to clarify whether LINC01226 has a direct regulatory role or modulates MEF2C expression through alternative mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kevin Yauy, Anouck Schneider, Bee Ling Ng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-019-0558-8"}], "href": "https://doi.org/10.1186/s12920-019-0558-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31375103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31375103"}]}]}]}