Information

SMC1A


SMC1A

SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS (3).

Many individuals with changes in SMC1A usually display a non-classic phenotype (3,15,16,24,29) and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.

40% of individuals with changes in SMC1A display a phenotype that resembles Rett Syndrome (another neurodevelopmental disorder associated with intellectual disability) more than CdLS (3,30,31).

The gene SMC1A is on the X chromosome. There are two copies of the X chromosome in all of the cells of females and only one in all of the cells of males. For the majority of genes, one of the X chromosomes in females is inactivated (turned off) to have the same balance as in males. However, some genes are not inactivated and that is the case for SMC1A (32). This means that males are typically more severely affected than females, as females have two copies of the gene, with one likely to not have a mutation (3,15). There has been a report of mosaicism for a variant in this gene in one person only (16).

Find other pages that share the same topic as this page SMC1A4 SMC1A1
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