{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n LINC00575 is a long non‐coding RNA located within the chromosomal region 4q21.21–q21.22. Although its specific biological role has not been directly characterized in the available studies, its inclusion in a de novo microtriplication that spans nine genes—including BMP3, PRKG2, RASGEF1B, HNRNPD, HNRPDL, ENOPH1, TMEM150C, LINC00575, and SCD5—suggests that altered dosage of this region may contribute to neurodevelopmental abnormalities. In the reported patient, phenotypic features such as developmental delay, absence of speech, macrocephaly, and other dysmorphic traits overlapped with those seen in 4q21 microdeletion syndrome, implying that gains or losses within this region, potentially including aberrant expression of LINC00575, could be involved in the pathogenesis of such developmental disorders (1,2).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In contrast, an independent study focusing on the retina and retinal pigment epithelium (RPE) transcriptome identified novel genes with retina/RPE‐specific expression but did not report on LINC00575. This highlights that while several novel transcripts have been characterized in specialized tissues, the functional contributions of LINC00575 remain to be elucidated, particularly in the context of chromosomal copy number variations and associated clinical phenotypes."}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "H L Schulz, F A Rahman, F M Fadl El Moula, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cytogenet Genome Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000078564"}], "href": "https://doi.org/10.1159/000078564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15218245"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15218245"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Igor N Lebedev, Lyudmila P Nazarenko, Nikolay A Skryabin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.37754"}], "href": "https://doi.org/10.1002/ajmg.a.37754"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27288323"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27288323"}]}]}]}