HDAC8

HDAC8

Changes to the gene HDAC8 were first reported in individuals with classic and non-classic CdLS (¹⁸). HDAC8 is also on the X chromosome but it can be inactivated. It is important to note that changes on HDAC8 may also result in characteristics that do not resemble CdLS (³⁹). Currently, variants in HDAC8 have been found in about 5% of individuals with CdLS (²⁴,³⁸,³⁹,⁴⁰,⁴¹,⁴²).

There is a wide variation in the phenotype shown by individuals with a mutation in HDAC8. Typically, individuals with a mutation in HDAC8 have a non-classic CdLS phenotype, but some individuals do fulfil the criteria for classic CdLS. In addition to the features of CdLS, individuals with a change in HDAC8 may show some other distinctive features.
These include: A large anterior fontanel (the soft spot on an infant’s head before the skull bones meet at approximately 2 years of age), widely spaced eyes or a happy personality.

Because HDAC8 is randomly inactivated when there is more than one X chromosome (⁴¹), both males and females can be affected when there is a mutation in this gene. Some of these females can be completely healthy, and in those cases, most have non-random inactivation of the HDAC8 with the mutation (⁴¹,⁴²).

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 jul. 2018

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Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10

Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09