{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DCDC1 is a gene that encodes a protein containing a doublecortin (DC) domain—a module known from other family members to be involved in microtubule‐binding and neuronal migration. Although its precise molecular function remains to be fully elucidated, expression analyses have shown that DCDC1 is highly expressed in the fetal brain and more modestly in adult brain, while expression in adult testis is predominant (1). This expression pattern suggests that DCDC1 may play a role in neurodevelopment, possibly contributing to cytoskeletal organisation or neuronal migration during brain formation.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, DCDC1 is located in the chromosomal region 11p13, a region that is of particular interest because of its involvement in eye development. Several studies have identified deletions in this region—which include DCDC1 among other genes downstream of the key ocular regulator PAX6—that are associated with ocular malformations such as aniridia (2, 3, 4). Although these deletions leave the PAX6 coding sequence intact, the loss of adjacent regulatory elements or genes like DCDC1 may modify the expression of PAX6 or disrupt chromatin organization, thereby contributing to the phenotype. Thus, while the functional role of DCDC1 itself remains to be detailed, its genomic context and expression profile suggest that it may not only be important in neurodevelopment but also act as a modifier in ocular development.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, based on the available reports, DCDC1 is a doublecortin domain–containing protein with likely roles in the developing brain and, by virtue of its chromosomal location, may also impact eye development when structural alterations in its region disturb regulatory networks. \n <br>\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", \n (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", \n (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", \n (4)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Li Zeng, Shaohua Gu, Yao Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-003-0033-3"}], "href": "https://doi.org/10.1007/s10038-003-0033-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12820024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12820024"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xiaohui Zhang, Qingsheng Zhang, Yi Tong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Vis (2011)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21364908"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21364908"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62559"}], "href": "https://doi.org/10.1002/ajmg.a.62559"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34773354"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34773354"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Lara Balay, Ellen Totten, Luna Okada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies."}]}, {"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.37388"}], "href": "https://doi.org/10.1002/ajmg.a.37388"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26419218"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26419218"}]}]}]}