The classic phenotype of CdCs encompasses a cat-like cry, facial dysmorphism, microcephaly, psychomotor delays, and intellectual disability ( Overhauser et al., 1994 Overhauser J, Huang X, Gersh M, Wilson W, Mcmahon J, Bengtsson U, Rojas K, Meyer M and Wasmuth JJ (1994) Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome. Am J Med Genet Part C Semin Med Genet 169:224–238.). Although 5p deletion is clinically and genetically well described, the phenotypic variability observed among patients with the deletion suggests that additional modifying factors, including genetic and environmental factors, may impact patients’ clinical manifestations ( Nguyen et al., 2015 Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF and Campbell DJ (2015) 5p deletions: Current knowledge and future directions. Duarte et al., 2004 Duarte AC, Cunha E, Roth JM, Ferreira FLS, Garcias GL and Martino-Roth MG (2004) Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Further research may confirm those that are directly involved in the development of CdCs phenotypes and improve our understanding of CdCs-associated molecular mechanisms.Ĭri-du-Chat Syndrome 5p– cytogenomics integrative Analysis PPI systems biologyĬri-du-chat syndrome (CdCs, OMIM 123450) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births ( Niebuhr, 1978 Niebuhr E (1978) The cri du chat syndrome - epidemiology, cytogenetics, and clinical features. Although further functional analyses of these proteins are required, we identified candidate proteins for the development of new multi-target genetic editing tools to study CdCs. We identified biological processes involving genes previously found to be associated with CdCs, such as TERT, SLC6A3, and CTDNND2, as well as novel candidate proteins with potential contributions to CdCs phenotypes, including CCT5, TPPP, MED10, ADCY2, MTRR, CEP72, NDUFS6, and MRP元6. Based on clinical findings, molecular characterization of chromosomal rearrangements, and systems biology data, we explored possible genotype–phenotype correlations involving biological processes connected with CdCs candidate genes. Data were extracted from cytogenomic findings from patients with CdCs. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using systemsbiology. Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births.
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