Fig. 5: Molecular diagnostic pathways for cornelia de Lange syndrome.

NGS = next generation sequencing/modern genetic testing approaches.

Fig. 5: Diagnostic pathways for Cornelia de Lange (CdLS) Syndrome. In individuals with the classic phenotype, the first-line approach should be modern genetic testing approaches by either examining multiple genes at once, examining all of the genes that code for proteins in an individual or by examining the complete DNA of an individual. This should include all of the currently known CdLS genes (NIPBL, SMC1A, SMC3, RAD21, BRD4, HDAC8 and ANKRD11). If these approaches are not available, genetic testing should begin by examining NIPBL (classic CdLS phenotype). In individuals with the non-classic CdLS phenotype, the phenotype itself may allow experienced clinicians to determine which gene should be sequenced first; if this cannot be determined, modern genetic testing approaches can be performed. In the case of negative results, NIPBL and the other CdLS genes should be tested for mosaicism using tissues other than blood (as not all of the cells tested may show the mutation), for example, cells in connective tissues, cheek/mouth swabs or cells from urine. There are other tests that can be carried out to investigate the NIPBL gene (i.e. whether it has been deleted or duplicated), these are called multiplex ligation-dependent probe amplification or chromosome microarray. These tests can be used before other genetic testing approaches, or may be used following these approaches to investigate gene variants further.

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Juli 2018

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