Information

Other genes


Other genes

Changes in several other genes associated with a phenotype of the CdLS spectrum have also been found. Individuals with changes to these genes show a small number of clinical features seen in CdLS.

  • Changes in the gene EP300 have been found in individuals with some features suggestive of CdLS (44).
  • Changes in the gene AFF4 have been found in several individuals with CHOPS syndrome. “CHOPS” stands for cognitive impairment (e.g. problems with memory, communication and thinking), coarse facial features, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia (disorder that affects bones/joints and hinders growth). CHOPS syndrome includes features which overlap with CdLS (45).
  • Changes in the gene NAA10 have been found in some individuals with some resemblance to CdLS that is limited to the region around the eyes (5).
  • Changes in the gene TAF6 have been found in two families with children who showed features that overlap with CdLS (4).
Find other pages that share the same topic as this page back to overview
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