01:51am Thursday 04 June 2020

The woman's view from the heart of families with fragile X syndrome

(SACRAMENTO, Calif.) —“Fragile X-Associated Disorders: A Woman’s View from the Heart of the Family,” is the topic of the December UC Davis MIND Institute Distinguished Lecture Series presentation.

Stephanie Sherman, professor in the Department of Human Genetics at Emory University The speaker will be Stephanie L. Sherman, professor in the Department of Human Genetics at Emory University in Atlanta. She will explore how fragile X syndrome affects women, both as patients and as cargivers for their family members with fragile X-related disorders. The lecture will take place on Wednesday, Dec. 11, from 4:30 p.m. to 6 p.m. in the UC Davis MIND Institute auditorium at 2825 50th St. in Sacramento. The event is free and open to the public, and no reservations are required. 

Stephanie Sherman, professor in the Department of Human Genetics at Emory University

Sherman will discuss the clinical consequences of the fragile X premutation among women and emphasize the need for further study of interventions to ensure that women, who are at the heart of families with fragile X-associated disorders, can themselves have full and healthy lives and, at the same time, facilitate better lives for their family members.

All mothers of children with fragile X syndrome carry a mutation in the FMR1 gene, which increases the risk of at least three clinically significant manifestations among women.

First, during transmission from parent to child, this allele can expand to the full mutation, leading to fragile X syndrome. This expansion only occurs during transmission of the mutation from mother to child, not from father to child.

Second, the premutation leads to an increased risk for fragile X-associated primary ovarian insufficiency (FXPOI), a disorder that can lead to sub-fertility and to other clinical consequences associated with early estrogen deficiency.

Third, the premutation is associated with fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder that is more common in men who carry the premutation but also occurs in women.

Other manifestations of the premutation may also exist, possibly exacerbated by genetic and environmental factors. Since women with the premutation play a central role in the lives of their family members, commonly caring for a child and for a parent with fragile X-related disabilities, their good health and well-being is crucial.

The MIND Institute Resource Center, specializing in information and resources relating to neurodevelopmental disorders and related conditions, is open one hour before and 30 minutes after each presentation.

The UC Davis MIND Institute in Sacramento, Calif., was founded in 1998 as a unique interdisciplinary research center where families, community leaders, researchers, clinicians and volunteers work together toward a common goal: researching causes, treatments and eventual preventions and cures for neurodevelopmental disorders. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web at mindinstitute.ucdavis.edu.

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