Information

RAD21

RAD21 also forms part of the core cohesin complex (³⁴). Changes in RAD21 have been found in a small percentage (1-2%) of causes for CdLS. Individuals with changes in RAD21 are reported to have a non-classic CdLS phenotype (¹⁷,²⁴,³⁵). Both loss of function and missense mutations have been reported, as well as deletions within the RAD21 gene (³⁶). It is difficult to look at the relationship between this specific gene mutation and clinical characteristics due to the low number of individuals reported to have a mutation in the RAD21 gene.

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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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Zuletzt geändert von Gerritjan Koekkoek am 2022/09/29 16:10

Erstellt von Gerritjan Koekkoek am 2019/03/27 15:09

RAD21

RAD21

The World Federation of CdLS Support

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