Video

How is Fragile X Syndrome Inherited?

00 h 02 m

How Fragile X syndrome is inherited is a very common question and one of the first things a newly diagnosed family asks. Let’s be clear — Fragile X is an inherited condition.

About the Video

With Kate Shelly and Sydney Rainin-Smith
Learn more about the presenters

Dr. Kate Shelly recently updated our two-minute tip, with voiceover provided by Sydney Rainin-Smith, proud member of the Fragile X community.

With a very rare exception, when the FMR1 gene is deleted, the gene mutation comes from either the individual’s father or mother. However, we don’t all talk about genetics every day, so it can be a hard concept to follow. In fact, surprisingly, we still hear of doctors incorrectly stating how the gene mutation is passed down.

Additionally, once an individual or parent receives a diagnosis, talking about it with potentially affected family members can be difficult for many reasons. If this is you, we have resources to help families with a new diagnosis. We hope this quick video will help you better understand how Fragile X is inherited.

Additional Resources

About the Creator

Voiceover provided by Sydney Rainin-Smith, proud member of the Fragile X community.

Katharine Shelly headshot.

Kate Shelly

Emory University School of Medicine
Postdoctoral Fellow & Genetic Counseling Student

Kate Shelly is a postdoctoral fellow and student in the Genetic Counseling Training Program at Emory University. She researches the phenotypes and mechanisms of Fragile X-associated primary ovarian insufficiency (FXPOI) in the labs of Drs. Peng Jin and Emily Allen. She started studying the Fragile X premutation and its effects on ovarian function during her PhD studies at Baylor College of Medicine while mentored by David Nelson.

Her work combines knowledge of human reproduction gained during her time in a clinical embryology lab at the private infertility clinic Reproductive Associates of Delaware and basic research experience earned during her PhD in genetics and genomics. She leverages mouse models of the premutation with data from women with FXPOI to understand how the premutation changes ovarian function and how it can be treated. As a Genetic Counseling Training Program student, she may counsel members of Fragile X families about the genetics of Fragile X and help facilitate appropriate care for them.