Information

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).

Find other pages that share the same topic as this page back to overview HDAC82
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
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).

Page history
Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org