Mosaicism in Males with Fragile X Syndrome

Amie Milunovich
Amie Milunovich

05 mins read

We are excited to share journal publications like this that resulted from FORWARD data. Many more papers are currently being developed, and the future of Fragile X syndrome research is bright as more data is gathered. FORWARD-MARCH is the next step, and we will collect more detailed information.

The Association Between Mosaicism Type and Cognitive and Behavioral Functioning Among Males with Fragile X Syndrome

This study[1] looked at mosaicism in males with Fragile X syndrome. Most males with FXS make very little or no amount of a protein, called FMR1, that is important for brain development. This happens because the gene that makes this protein has been “turned off” in all of the cells in their body by a process called methylation. However, some males with FXS have what is called “methylation mosaicism” which means that some, though not all, of their cells have a gene that has not been turned off by methylation and can still make the FMR1 protein.

In this study, participants with methylation mosaicism tended to have less severe intellectual disability and better social and functional skills. More research needs to be done, but knowing more about how FXS differs in people with and without methylation mosaicism may eventually help guide expectations and treatment of individuals with FXS.

Read the article at American Journal of Medical Genetics Part A

About the FORWARD-MARCH Registry & Database

Since 2012, the CDC has funded FORWARD Fragile X studies to expand understanding of Fragile X syndrome. The NFXF has been coordinating study efforts since the beginning and has been vital in ensuring its success.

FORWARD-MARCH is the next step and will collect more detailed information from participants to better understand FXS and improve the lives of children and adolescents with FXS and the lives of their families.

Learn more about FORWARD-MARCH and how to participate.

About the Author

Amie Milunovich

Amie joined the NFXF in 2015. She holds a bachelor’s degree in family and consumer science and is a SOCRA certified clinical research professional (CCRP). Amie has over 15 years of experience working in clinical research. She enjoys Bikram yoga, painting, cooking, and spending time with family and friends.

References

1. Meng, L., Kaufmann, W. E., Frye, R. E., Ong, K., Kaminski, J. W., Velinov, M., & Berry-Kravis, E. (2022). The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. American Journal of Medical Genetics Part A, 188A: 858– 866. doi:10.1002/ajmg.a.62594